Open access peer-reviewed chapter

Forensic DNA Technological Advancements as an Emerging Perspective on Medico-Legal Autopsy: A Mini Review

Written By

Zsolt Pádár, Petra Zenke and Zsolt Kozma

Submitted: 29 November 2017 Reviewed: 30 November 2017 Published: 14 February 2018

DOI: 10.5772/intechopen.72851

From the Edited Volume

Post Mortem Examination and Autopsy - Current Issues From Death to Laboratory Analysis

Edited by Kamil Hakan Dogan

Chapter metrics overview

1,939 Chapter Downloads

View Full Metrics

Abstract

The importance of biological traces and evidences related to a criminal matter has been recognized for a long time. The examination of the expression of genetic polymorphism has been an integral part of the multidisciplinary field of medico-legal autopsy for over a century. Since the initial application of blood group antigens for personalization of a putative perpetrator in a murder case, the discipline of forensic genetics has evolved as a standard of forensic sciences. The real breakthrough, the application of molecular tools and processes for the in-vitro replication of genetic substances, has increasingly allowed the exploitation of advances of molecular genetics for both forensic and criminal investigations. Although there are certainly many more applications and scientific fields in the medico-legal arena, the relatively fast progress of genetics, which has accelerated recently with state-of-art technologies, can provide ever more relevant information in relation to a corpse or the cause and manner that resulted in the corpse for autopsy. This topic concerns the currently accepted forensic DNA technology, and the last section reviews commonly used markers for nuclear and mitochondrial DNA analysis as well as ongoing research. This review also focuses on the increasingly important non-human sources of DNA, and shortly covers the main aspects of animal forensic DNA examination.

Keywords

  • forensic genetics
  • genetic identification
  • DNA typing
  • non-human DNA
  • animal forensics

1. Introduction

The application of genetics using molecular tools to characterize, identify or practically individualize the biological evidence after the medico-legal autopsy has been adopted worldwide [1]. Forensic genetics as an applied science provides those techniques to contribute to the proper examination of different collected samples. The range of associated biological evidence can be fairly wide, including samples from the body and on the body, as well as human and non-human biological remains. In spite of the existing sampling protocols or recommendations, in some situations, optimal sample collection may be pointless. In some cases, the swabbing of skin surface or fingernails can be effective [2, 3, 4] but also reveal an uninformative or uninterpretable mixture. In other cases, the optimal sampling tries to avoid an excessive number of samples, but the efficiency of seemly appropriate samples can vary according to subsequent analytical steps taken [5] or if the samples were provided for another type of examination [6, 7]. In essence, optimal solutions may be successfully obtained by using slightly different procedures depending on the source of the biological samples [8].

The methodology, in order to obtain genetic profiles, haplotypes, specific markers or species specific information, covers examination of both the nuclear and mitochondrial genome. The technical and theoretical foundation of forensic DNA analysis includes formal protocols as well as the use of standard, commercially available kits and reagents to obtain consensus examinations [9]. The desire for development of higher throughput of laboratory examination, the automation and standardization of steps of DNA analysis—the sample preparation/DNA extraction [10, 11], quantitation [12, 13], new devices [11, 14, 15] and yearly new multiplexes [9] for PCR amplification, fluorescent dye detection systems—provides for wide range advantages of its application.

However, despite the evolution in sensitivity and resolution of DNA techniques allowed by significant achievements year after year, the reality of cases present great risk and do have limitations. Although extreme applications and challenges such as low copy number [16, 17], degradation of DNA [18, 19] as well as mixtures [20, 21] or the collective consequences of these can present themselves as fairly complex issues, there is movement toward improving their interpretation [22, 23].

Advertisement

2. Brief insight into the past, present and future of forensic DNA technological advancements

Forensic genetic analysis is routinely used to obtain required information from biological samples of an autopsy for identification of persons associated with criminal casework or in instances of mass disaster. Upon the characterization of DNA samples using the most promising methods and techniques to improve their collection and further examinations via a medico-legal autopsy, the following steps of a DNA examination are performed in a molecular genetic laboratory, which is a significantly different environment from that of the autopsy room, for extraction, amplification, analyzing (profiling) and interpretation of samples. The proper process of sampling and sample storage used in an autopsy most certainly apply to the transportation of samples; however, contamination issues are always present, not only during the autopsy procedure, but also during the DNA analysis.

Several changes in methodology have promoted the genetic examination of samples with the desire to generate information from the smallest possible amounts of DNA. Wide-scale DNA extraction methods are commonly utilized in forensic practice, but have often proven to be insufficient in recovering all of the collected DNA. In many cases, however, this fact is irrelevant, due to the low minimal requirement of most common typing systems. Recently developed, commercially available kits and methodologies are optimized for specific types of samples and robotic systems [24, 25]. The adequate PCR-based methodologies [26, 27, 28] allowed for successful analysis from types of samples not previously examined, such as old, burnt, degraded bone and tissue samples [18, 29, 30, 31], single human hairs [32, 33], fingernail [2, 3, 34, 35], bite marks/saliva [36, 37] or touched surfaces [38, 39] and nonhuman remains [40].

2.1. DNA analysis of human and human-derived biological samples

2.1.1. Extraction of biological remains for DNA typing

As mentioned above, potential sources of biological samples related to autopsy are fairly wide ranging. The collected samples contain several substances in addition to DNA, therefore DNA molecules have to be separated from proteins and other cellular material as well as possible additional environmental contaminators, which can inhibit the subsequent steps of analysis [8].

For this reason, a number of methods have been steadily improved, upgrading the primary application for purification of DNA and avoiding its further degradation [10, 11]. Owing to the great variability of multiple influential factors, there can be no “best preparative answer,” rather a selection of most suitable ones. A suitable extraction method should be consistent, sensitive and preferably quick and easy to use. It must also be able to deliver as-pure-as-possible DNA samples, ready to be used in downstream molecular applications and should pose minimum risk for possible cross-contamination between samples as well as between samples and users.

The solution-based, organic extraction method variants [41, 42], combined with filtration and concentration devices [43, 44, 45], have been used in practice for long time [46]. These methods can obtain high-quality DNA/RNA, and are adaptable for smaller or larger pieces of evidence material, but are relatively time consuming and require several—including some hazardous—chemicals and transfers. Higher-throughput automated DNA analysis promoted the benefits of variants of solid-phase DNA extraction methods [47]. The developed techniques include, for example, employing silica columns for the isolation and formation of complexes between nucleic acid and the silica gel matrix. In these the DNA selectively binds under particular pH and salt content conditions based on the principles of hydrogen binding to a hydrophilic matrix, ionic exchange using an anion exchanger or size exclusion and affinity. The retained DNA is finally eluted from other components in the subsequent washing steps [48]. An alternative, widely-used solid-phase DNA extraction method is based on an anion exchange/chelating resin that has a high affinity for polyvalent metal ions [41]. This procedure is less compound and faster and limits the use of multiple transfer tubes which reduces the risk of contamination. It requires only small sample volumes, and while it may be combined with, for example, proteinase K digestion and incubation, the high-temperature Chelex denatures the double-stranded DNA. Single-stranded DNA is obtained and remains suspended in the supernatant for downstream PCR [49, 50, 51]. Another commonly supplied solid-phase extraction is based on the reversible bonding of DNA to magnetic particles coated with a matrix of polymers or silica with terminal functionalized groups. The DNA bonded magnetic pellet is immobilized using an external magnet, and the discarded DNA are eluted after washing steps [52, 53]. Several commercially available extraction kits have been manufactured using the liquid/solid DNA extraction approach, and these have been incorporated into semi- and fully automated equipment [8, 24, 25, 54, 55]. The desired optimal DNA extraction from minute samples integrated with new technical developments and automation, “sample-in-answer” platforms for various types of tissues, are ongoing research topics [11, 14, 15, 56, 57, 58].

2.1.1.1. Extraction of compound and/or challenging samples

In point of fact, many—sometimes most—relevant casework samples belong to, so-called, difficult or challenging samples, which are, for example, more or less mixed and/or have a low copy number (LCN) or include low-template DNA (LTDNA). To process these difficult samples, several approaches have been developed, although the basic idea has not changed much. What would be the optimal selective or differential way of extraction in order to provide the greatest amount of the available target DNA with the least of the potential inhibitors and thus avoid downstream profiling from non-relevant allelic contributors [8]? An early technical solution for the separation of male and female content from mixed samples of sexual assault cases is based on the differential analyses of sperm and vaginal epithelial cells [59, 60]. The traditional differential extraction procedure has undergone modification, improvement and automated platforms, despite improvements in the alternative separation developments, and years later, is still in use today [61, 62].

Other potentially non-mixed, but easily containable low template DNA samples such as burned body or tissue which was subjected to a high temperature [46, 63, 64, 65], formalin-fixed samples [66, 67, 68], a piece of short hair with no root [69], or fingerprints of a touched surface and body parts [38, 39, 70, 71, 72] often require special consideration. Depending on the complexity of various influences, and with lack of valid information concerning the initial environmental circumstances and the chemical and/or physical processes involved, the degree of damage of and/or quality of obtained DNA cannot be, at first, accurately predicted. Since most extraction methods vary in relative efficiency and are incapable of offering an all-encompassing solution to the problem, for the purpose of optimization of a given procedure, it would be reasonable to consider the modification, combination or elimination of certain steps from different methodologies, specifically for trace samples [72].

2.1.2. DNA typing of human and human-derived biological samples of a medico-legal autopsy

2.1.2.1. Quantitation, amplification, sequencing, separation and detection

Although the practice of omitting the extraction and quantitation steps may occasionally seem to present a kind of benefit in regards to time and reduction of costs, for example in the case of disaster-victims [73], there may be multiple reasons for quantitation of the target DNA of extracted samples [13]. When it cannot be excluded that the extracted samples putatively include additional DNA from other species, or the seemly homogeneous sample is actually a mixed—for example, male and female epithelial cells at touched body surface—sample, determination of the appropriate amount of template DNA is required. In addition, the assumption that only low amounts of DNA obtainable in touched objects cannot always be correct, and in these situations, quantification can ensure the efficiency of downstream PCR [12]. It can help to provide an indication of hidden inhibitors [74] and to avoid off-scale artifacts or over-amplification. However, since the accuracy of various methods and commercially available kits can be slightly different [75, 76, 77], in cases of very low template amounts, quantitation can be often appropriated for indication, rather than merely an absolute measurement of the concentration, consequently, a negative quantitation result should not prevent future downstream amplification [12]. In light of standardized sampling tools and protocol developments as well as different alternative amplification methods—mainly in the field of reference samples—the importance of the quantitation step is partially based on ongoing research [78, 79, 80].

Very small amounts of nearly all targeted biological samples and DNA have been made detectable thanks to in-vitro replication—the polymerase chain reaction (PCR) [81]. The standardized amplification process, in increasing number of cycles, is an appropriate method to ensure efficient analysis, even of LTDNA obtained from the corpse belonging to persons other than that of the victim. The efficiency of PCR reaction is higher when the copy number of the entire target DNA is higher and/or the length of the amplified fragment is shorter. The specificity of PCR is directly affected by the primers and the primer binding site at target DNA. The number of markers can be amplified simultaneously in the same aliquot with an optimized mix of primer pairs, but the reaction can be inefficient due to the presence of different inhibitor molecules. When amplifying a low level of sample DNA—with higher probability of mixed samples—an unequal, stochastic fluctuation can manifest, which may lead to a preferential, imbalanced presence of the allelic component, and the number of PCR cycles cannot be increased unlimitedly [17, 82, 83, 84].

Since the initial application of the PCR method, several modifications and alternative molecules, e.g., novel DNA polymerases [85, 86], oligomeric mobility modifiers [87, 88] and fluorophores for labeling [89, 90], nonamers, aptamers [91, 92], etc., have been developed [82]. PCR can performed in a solution, using immobilized amplicon at solid phase (SP-PCR) [93, 94] or compartmentalization of template molecules in water droplets in a water-in-oil emulsion (Em-PCR) [92, 95, 96] to obtain the desired sequence or fragment length of sample DNA. The combination of improvements in chemistry and the evolution in analytical—separation, detection—platforms provides a plethora of applications. Merging advantages of fluorescent tags with mobility modifiers gives a unique electrophoretic signature for each amplified ligation product and enables extensive sample multiplexing for separation by capillary array electrophoresis with laser-induced fluorescence detection on an automated genetic analyzer [82, 97, 98]. The uses of fluorophores sensitized by fluorescence resonance energy transfer (FRET) provided detection kinetics of fluorescence accumulation, and combined PCR amplification with real-time detection [76, 77, 99, 100]. Alternative, or engineered, high-processivity DNA polymerases can have increased resistance to inhibitory factors relating to amplification of target DNA directly from samples without prior extraction or quantification [73, 78, 101, 102].

With the incorporation of more fluorophores as fluorescently labeled ddNTPs with primer extension and chain termination [103] on capillary electrophoresis platforms, a complete genome is sequenceable. An alternative solution for sequence determination is based on sequentially added nucleotides to the synthesis reaction, and real-time detection of an optical signal of released pyrophosphate molecules [104]. Recently, successive generations of massively parallel (MPS) or deep-sequencing methods—also referred to as next (NGS) or current generation sequencing—applying different phase PCR, different molecule-labeling, different—optical, proton or electric—signaling and platforms have revolutionized genomic research. State-of-the-art devices provide sequencing of both whole genomes and that of many individuals simultaneously, even from a single molecule of deoxyribonucleic acid [105, 106, 107]. As a result of variance in the error rate of existing MPS assays, platforms and computational techniques, forensic validation of the quality of a NGS provided data is recommended [106]. With the application of MPS technology in the forensic genetic field, the limited number of STR and SNP capable of being [108] can be ignored, while increasing the potent application of SNPs in degraded samples, allowing the simultaneous analysis of different marker types and improving the high throughput for mitochondrial DNA testing as well in caseworking and databasing for laboratories [109]. Additionally, the implementation of MPS on the field of molecular autopsy can increase the genomic and etiological background in cases of sudden death, allowing for new therapies and strategies for treatment or prevention [110]. Although new developments have mostly superseded conventional sequencing, the first-generation Sanger sequencing method is still occasionally used in many, not-only-lower throughput laboratories [111].

Over the last decade, microfluidic DNA analysis and devices—also referred as microfluidic biochips; sample-in to results-out, lab-on-a-chip (LOC) technology—present an enticing technology platform for automating laboratory procedures [112]. DNA biochips enable the miniaturization, integration, and automation of tests, and can perform thousands of biological reactions in a few seconds [113, 114, 115]. Integrated and mobile rapid-DNA devices, which are designed for several purposes, can produce quality STR-profiles suitable for reference or as database samples [80, 116]. The ever smaller size of state-of-the-art devices may allow for portable DNA analysis, possibly even meeting the needs of decentralized environments [79]. Despite successful typing results from casework samples which indicate that mobile technologies can provide investigative leads, their implementation in casework also brings along possible risks of losing information concerning crime scene sample profiling [117, 118]. Although the constantly increasing demand for high-throughput and parallel analytical devices assists integration of state-of-the-art technology with the forensic DNA process, many opportunities exist for further improvements.

2.1.2.2. Brief history of markers for individualization of human samples

Those genetic markers which have high mutation rates are appropriately polymorphic and useful for forensic examinations. Polymorphic DNA variation can be fundamentally divided into the branches of sequence polymorphic and length polymorphic markers or loci, both for human identity. The genome-scattered repeated DNA sequences form—sometimes referred as mini- or microsatellites [9, 119]—is typically designated by the length and number of repetitive units. The medium-length repeat (8–100 bp)—sometimes referred to as variable number of tandem repeat (VNTR)—markers such as D1S80, were mostly commonly used in the first part of the 1990s [120, 121]. Despite the relatively high level of polymorphisms of VNTR loci [122], the ability for easier PCR amplification—avoiding the problems of preferential amplification—has made the shorter-length repeat (2–6 bp)—sometimes referred to as microsatellites, short tandem repeat (STR)—markers more popular. The potency of analysis of degraded DNA using STR is greater due to it being less prone to allelic drop-out and more discriminative than the earlier alternatives.

A plethora of STRs are present in the human genome, and can vary not only in the length but also in the intervening sequence [123, 124]. Despite the complex, hypervariable motifs of some tetramer loci—posing a challenge for appropriate genotyping, among the types of STR markers—the tetranucleotide repetition has been developed for common forensic applications [9, 125, 126, 127]. Due to the narrow allele size range of STRs, the monoplex form of PCR has been rapidly replaced by the quadruplex form [9, 128, 129, 130, 131]. The increasing number of standardized STR loci and fluorophore molecules combined with capillary electrophoretic separation [90, 97, 132, 133] has established the standard sets of STR markers for the forensic community [9]. Based on the national legislation of “core” loci, numerous national DNA databases have come into existence, and a collaboration on an international level between them has evolved. Existence of databases efficiently supports the recent state-of-the-art developments using database-related markers in further applications [9, 79, 80]. In addition to the application of MPS technology, it may also provide further sequence information for a more in-depth evaluation of STR alleles [106, 109, 134].

The early application of sequence polymorph markers in the forensic field is based on reverse dot-blot hybridization and allele-specific oligonucleotide (ASO) probes [135]. However, there are countries where the use of information of the coding DNA sequences for forensic purposes are restricted in some jurisdictions, which has limited the widespread use of sequence polymorphic markers in the forensic field. Additionally, the multi-allelic polymorphic STR markers have a higher number of possible alleles and a higher discrimination power than that of the early developed sequence polymorph systems such as Polymarker or HLA DQ alpha testing kits [136, 137, 138]. In spite of the validation and popularity of these types of polymorphic markers, they have already been phased out of forensic practice.

However, alternative sequence variability and biallelic markers—also referred to as single nucleotide substitution or polymorphisms (SNP)—are the most abundant polymorphism at the genome level, and they provide potent applications in forensic identification [139]. The biallelic polymorphisms have a lower mutation rate than the STRs [140, 141], and can be preferable in case of degraded samples. In spite of the lower discrimination power of a single biallelic marker when compared to a single STR locus, the increased number of simultaneously analyzed SNP loci can be effective for various uses in the forensic genetic field, which in light of advances in massive parallel sequencing can be especially progressive [109, 142, 143, 144].

2.1.2.3. Brief history of uniparental lineage markers

The Y-chromosome and mitochondrial DNA (mtDNA)—also referred as uniparental/lineage markers—are both haploid entities and, as such, are transmitted from generation to generation without recombination. Consequently, the variability of these markers depends on mutation events [145, 146]. The early implementation of these markers into forensic practice is based on several approaches and is becoming ubiquitous in forensic genetics [147, 148]. Although forensic application of these markers is accompanied by both advantages as well as limitations, their usage does, however, overcome two major challenges commonly encountered by the forensic scientist. In particular, for Y-chromosome specific markers, an increase in the otherwise-limited success of PCR obtained from male/female mixtures and, for mtDNA, obtaining genetic information from samples that are degraded, or nuclear DNA (nuDNA) free.

Although, in numerous cases, jurisdictions make use of the benefits that lineage marker analysis can bring, they do however have strong limitations in forensic applications, specifically, conclusions may not be drawn on the individual level as would be otherwise desirable [149, 150, 151]. Although haplotype markers usually are not included as standard markers in police databases, similarly to the Internet-based STR information resource [9, 152], haplotype databases have also been designed to store haplotypes from global populations. These provide a basis for frequency estimations and support data quality requirements to facilitate on-going efforts in forensics DNA investigation [153, 154]. In addition to complete autosomal genetic profiling, the genetic information of lineage markers is especially important in both forensic parental or kinship analyses [155], as well as from an evolutionary and genealogy point of view, in the prediction of potential geographic or ancestral origin [156, 157, 158].

The Y-chromosome [159], however, is present with only one copy per normal cell, and has higher diversity than mtDNA in addition to an increasing number of Y-STRs [9, 155, 160] completed by rapidly mutating (RM) markers [155, 160, 161, 162], Y-SNPs [155, 160, 163, 164, 165] and insertion/deletion polymorph (Indel) markers [166, 167]. Although, the analysis of Y-chromosomal markers can provide complementary information in addition to an autosomal genetic profile [168], the most common application of Y-STRs is in cases of sexual assault, when the female component can greatly overshadow the male component, making autosomal STR profiling frequently difficult, unclear or impossible. Examination of Y-chromosome markers is available in a wide range of commercial kits [12, 169, 170] which perform adequately for identifying male lineages.

Mitochondrial DNA, similar to the Y-chromosome, is not a unique identifier, but its examination in criminal cases can be nevertheless reasonable, for example, when the profiling of nuclear DNA markers fails to produce a profile. The mitochondrial genome evolves relatively rapidly, and newly arising—primarily point—mutations tend to become fixed faster and at a higher rate than that for nuDNA. In the mitochondrial genome, the highest level of genetic variation is located in the control region (CR) [171]. The most common type of polymorphs belong to SNP, which can be found not only in the hypervariable regions (HV I?III), but in the entire mtDNA genome as well [172, 173]. Single base mutations may lead to such a condition in which both the mutated and original forms coexist as admixture, which is referred to as heteroplasmy [174, 175, 176]. Similarly, indel variability is also present in the mitochondrial genome [177, 178]. The higher sensitivity resulting from the order of magnitudes copy number of mtDNA, compared to that of nuDNA, makes it possible to obtain reliable haplotypes, when the DNA gathered from samples is highly fragmented and/or damaged. In addition, due to the inheritance of molecules, the genetic information from maternal relatives as references, e.g., for an unknown or missing person, are suitable for making direct comparisons. In the field of forensic genetics, the mtDNA is also a so-called historical marker analyzed by Sanger sequencing technologies [179]. This method combined with capillary array instrumentation or the application of pyrosequencing technology was previously ubiquitous in laboratories [180, 181] and is currently still in use [182, 183, 184].

Although the highest-polymorph regions are the traditionally-analyzed hypervariable regions (HV I–III), in some cases, sequencing of the whole mitochondrial genome is capable of solving even those cases, in which the hypervariable haplotype cannot be differentiated between individuals. The increasing demand for mtDNA examination—missing person cases, natural disasters, human rights investigations, etc.—has revealed the limitation of throughput and cost-benefit relations of conventional technology which had previously focused on only part of the entire mitochondrial genome. The implementation of novel technologies such as MPS, provides an automated workflow and could offer its usage for a wide range of samples. Over the last decade, developments related to the sequencing of entire mtDNA genomes [185, 186] have resulted not only in the high throughput of data, improving the recovery of genetic information from forensic specimens, but have also focused on the discrimination potential of mtDNA evidence. Comparison of whole mitochondrial genomes can provide an understanding of mtDNA mutation and heteroplasmy, and completing it with the forensic validation of MPS platforms may lead to the deconvolution of mixtures, as well as providing solutions to other challenging casework problems [106, 187, 188].

2.1.2.4. Markers for investigation of cause or manner of death: molecular autopsy

Even though the active field of medico-legal autopsy can vary among different countries according to traditional and legislatorial backgrounds, the use of molecular analyses is becoming steadily more frequent and its importance is becoming more recognized in postmortem examinations. Several different forensic sciences—including forensic genetics—are inherently involved in this multidisciplinary molecular investigation. Molecular autopsy is still a relatively new concept in pathology and forensic sciences [189]. In contrast to cases of intentional or suspected violent death, in instances when death occurred either suddenly, unexpectedly, or involving infants and the young [3], autopsy sampling focuses on the corpse’s own substances to aid in determination of genetic markers and mutations which could be responsible for the cause or manner of death. From this point of view, the use of forensic genetics is not only strictly limited to purposes of identification, but may also be tasked by performing genetic tests for genes associated with disease [190, 191].

Several specific or rare diseases may be linked to a particular pathological condition in cases of both positive and negative autopsy [189, 192]. Novel MPS technology can be highly informative in detection of all variants of genes affecting unexpected death in epilepsy, adverse drug reactions and metabolism [192, 193, 194], as well as the cardiovascular system, e.g., cardiomyopathies and cardiac ion channelopathies, which have been associated with sudden cardiac death [110, 195].

Molecular autopsy is an emerging part of the medico-legal autopsy, and with the incorporation of genome-wide data and computational techniques, its benefit to this multidisciplinary field should continue to increase [192].

2.1.2.5. Markers for supplemental information

An earlier phase in forensic examinations focused on polymorph markers for the construction of forensic databases, as they do not vary over time [196]. The numbers of STR marker-based, legislated databases and their cooperation at the transnational level, as well as the volume of associative data-records and their efficiency are considerable economic factors for their consolidation in forensic practice [197, 198]. Massive parallel sequencing (MPS) techniques have recently provided the opportunity to extend the contemporary investigative role of databases by the sequencing of STRs [199]. A plethora of markers have been recently introduced for forensic applications, although the majority of them have yet to be integrated into forensic databases. The level of polymorphisms is based upon new mutations, which, when they arise in a population, are spread via natural selection, migration and genetic drift. Different types of markers exhibit different rates of mutation; for example, indel mutations occur less frequently than single nucleotide substitutions in both nuclear and mitochondrial genomes [119, 134, 140, 141, 145, 159, 177, 178]. A large number of autosomal and sex-chromosomal STRs, SNPs from both nuclear and mitochondrial genomes, indels and ancestry-informative markers (AIMs) and mRNA and phenotypical markers (FDP) have been introduced and applied by the forensic community. Numerous new markers are being implemented in advancing the desired goals of investigative authorities, specifically, how forensic genetics can help to improve the collection of the most relevant information in terms of individualization and identification from the least amount of biological samples. Due to their abundant distribution in both the nuclear and mitochondrial genome, SNPs increasingly can provide the genetic background for the prediction of physical characteristics [200, 201], or geographical origin [202, 203], and can also provide investigative tools to trace unknown individuals [204, 205] even from historical remains [206, 207, 208]. Determination of ancestry [209, 210] and externally visible characteristics, such as skin, eye and hair pigmentation [211, 212], morphology [213, 214], or age [215, 216], is an ongoing research field of forensics, requiring both forensic validation of analytical platforms and computation data.

Although there is a distinct probability of encountering the artificially altered appearance of phenotypes, the phrase “DNA witness” has obtained new perspectives with its potential for providing information of higher accuracy than that of traditional eye witnesses. In light of the above, forensic DNA phenotyping (FDP), although a promising technique, raises multiple, not only scientific, but also ethical and legislative issues [217, 218].

2.2. DNA analysis of nonhuman remains

There are cases when the victims have been involved in a pet or livestock animal attack with fatal—usually unwitnessed—consequences [40, 219, 220]. In other cases, animal hair from a victim’s body helps to reveal the perpetrator [221], or so-called “silent witnesses” such as plant remains [222] on corpses, or even evidence of algae from postmortem tissues, aid in determination of the manner of death [223]. Due to the increasingly particular importance of genetic analysis of nonhuman substances in these types of cases, forensic genetics today is progressively incorporating the examination of nonhuman genetic material to an ever greater extent [224]. In essence, the similarities in analog and ortholog variable components of genomes provide forensic investigation of nonhuman biological substances in the same manner as for human forensics, but distinctions existing in different organisms and species, i.e., genomic architectures, reproductive strategies and genetic diversity, are continuously broadening the dependent scientific areas. The benefits stemming from the extension of forensic genetics toward nonhuman relations were clearly recognized decades ago [225], and the incorporated application of animal, plant or microorganisms has been actualized in a large scale of caseworks, from animal attacks [226, 227] to bioterrorism [228], as well as in wildlife crimes [229, 230], identification of food composition [231, 232], Cannabis sp. chemotyping [233, 234], and even the estimation of postmortem interval and skin microbiomes [235, 236]. Other various aspects of possible nonhuman biological evidences found on the corpse, e.g., pollens or plant fragments, can reveal potential indirect links to the perpetrator, and also additional, case-related facts, complementing autopsy information with the modality of death or the crime scene setting for purposes of case reconstruction [237, 238]. The human-related techniques of forensic genetics have been adapted to nonhuman analyses, but the genetic markers implemented frequently originate from the field of conservation biology. This could be a reason that markers and data computation are more varied in nonhuman areas than those in human identification, and comparatively, are rarely standardized for all species. In recent years, genome-wide analyses and MPS technology have revolutionized this broad field in any case, so it would not be practical to introduce the enormous variety of nonhuman forensic DNA analysis here, within this section. Due to the common coexistence of humans and domestic animals, dog violence on humans leading to fatal consequences represents a frequent type of case [224, 239, 240, 241, 242]. In these cases, DNA can be separated from saliva from within the biting area, from animal hairs and sometimes blood, or bitten material, including the victims’ clothing [40, 219]. The saliva of dogs is a suitable source for DNA extraction [243, 244, 245], even when the human victim’s blood is present [40, 219]. Although DNA extraction from dog hairs has similarly been solved using well-developed methods [246, 247, 248, 249], genetic typing of single dog hairs has often failed [247]. As an analysis concept using shortened amplicons [231, 250, 251], the isolated DNA may be sufficient for successful amplification. Otherwise, when the amplification of nuclear markers is insufficient due to the low quantity and degradation of nuclear DNA, mitochondrial DNA may be more appropriate [252, 253].

STR-based genetic markers in multiplex forms have been continuously developed for canine individualization [254, 255, 256, 257]. Due to the fact that dogs have been involved from relatively early on in the forensic genetic field, positive differences have been made for canines compared to other species in forensic applications. The quality requirement for implementation of canine DNA analysis in forensic practice is as ambitious as in human forensics. The STR marker-sets which have been developed have relevant population studies, occasionally extended with genetic variance [258, 259, 260, 261, 262, 263, 264], inbreeding [258, 261] and mutation data [265]. Sequence databases of canine mitochondrial DNA have also been developed [266, 267, 268].

Accreditation measures for DNA typing in the nonhuman or animal forensic [269] field are established on a different level, and are occasionally of significant importance, as the potential number of species could be incorporated into legal procedures in a myriad of ways. Although, primarily due to the inherent heterogeneity of existing laboratory environments and the expense and complexity of accreditation, equalization of the nonhuman field to human forensic genetics poses a monumental challenge. Nonetheless, the first steps toward this goal must obviously be taken according to the developed recommendations concerning the standardization of DNA typing of animal species and products [270, 271, 272].

Advertisement

3. Conclusions

Although considerably younger, the field of forensic genetics is a distinct part of the forensic arena [1] and its presence has become widespread and is now accepted as the primary forensic method for identifying persons of interest [273]. The modern implementation of genetic analysis within the wider-scale field of autopsy has brought with it an increase in the potentiality of exhibits. The accreditation and quality assurance of the field of forensic genetics, in accordance with professional recommendations [274], legal regulations and harmonization [275], quality standardization and systems [276], as well as the establishment of national and international databases and their subsequent cooperation [197], have caused genetics to occasionally play a pioneer role among scientific fields on the forensic palette. Despite the relative youth of forensic genetics, several generations of methods have already been developed and obsoleted in this field. Recently, sequencing techniques have continued to move ahead at a staggering speed, and the massive parallel sequencing strategy, capable of simultaneously generating thousands of reads on state-of-art devices, will revolutionize genetic analysis [277, 278]. Although the admissibility of MPS results in a court of law will most likely continue to be challenged—as are mostly newly introduced methods—foreseeably raising concerns about privacy [278], the complementary application of MPS genome-wide data, with other innovative and advanced analytical systems—e.g., imaging analysis—can extend the professionalism and efficiency of the multidisciplinary medico-legal field to the ultimate benefit of society [278].

References

  1. 1. Lynch M. God's signature: DNA profiling, the new gold standard in forensic science. Endeavour. 2003;27(2):93-97. DOI: 10.1016/S0160-9327(03)00068-1
  2. 2. Wiegand P, Bajanowski T, Brinkmann B. DNA typing of debris from fingernails. International Journal of Legal Medicine. 1993;106:81-83. DOI: 10.1007/BF01225045
  3. 3. Padar Z, Barta A, Egyed B. et al. Hungarian experience of examination of the fingernails in violent crime. In: Sensabaugh GF, Lincoln P, Olaisen B, editors. Progress in Forensic Genetics 8: Proceedings of the 18th International ISFH Congress; 17–21 August 1999; San Francisco, CA, USA. Amsterdam, Lausanne, New York: Elsevier (ICS 1193); 2000. pp. 492-494. ISBN: 978-0444503039
  4. 4. Flanagan N, McAlister C. The transfer and persistence of DNA under the fingernails following digital penetration of the vagina. Forensic Science International. Genetics. 2011;5(5):479-483. DOI: 10.1016/j.fsigen.2010.10.008
  5. 5. Hoff-Olsen P, Mevag B, Staalstrøm E, et al. Extraction of DNA from decomposed human tissue. An evaluation of five extraction methods for short tandem repeat typing. Forensic Science International. 1999;105(3):171-183. DOI: https://doi.org/10.1016/S0379-0738(99)00128-0
  6. 6. Reshef A, Barash M, Voskoboinik L, et al. STR typing of formalin-fixed paraffin embedded (FFPE) aborted foetal tissue in criminal paternity cases. Science & Justice. 2011;51(1):19-23. DOI: 10.1016/j.scijus.2010.09.001
  7. 7. Patel PG, Selvarajah S, Boursalie S, et al. Preparation of formalin-fixed paraffin-embedded tissue cores for both RNA and DNA extraction. Journal of Visualized Experiments. 2016;114:54299. DOI: 10.3791/54299
  8. 8. Butler JM. Chapter 2—DNA Extraction Methods. In: Advanced Topics in Forensic DNA Typing: Methodology. Waltham, San Diego: Academic Press; 2012. pp. 29-47. ISBN: 978-0-12-374513-2. DOI: 10.1016/B978-0-12-374513-2.00002-6
  9. 9. The National Institute of Justice. Standard Reference Database SRD 130, Short Tandem Repeat DNA Internet DataBase. [Internet]. Available from: http://strbase.nist.gov [Accessed: 2017.10.10]
  10. 10. Stray JE, Liu JY, Brevnov MG, Shewale JG. Extraction of DNA from forensic biological samples for genotyping. In: Stray JE, editor. Forensic DNA Analysis. Current Practices and Emerging Technologies. Boca Raton, London, New York: CRC Press; 2013. pp. 39-64. ISBN: 978-1-4665-7136-5. DOI: 10.1201/b15361-5
  11. 11. Gan W, Zhuang B, Zhang P, et al. A filter paper-based microdevice for low-cost, rapid, and automated DNA extraction and amplification from diverse sample types. Lab on a Chip. 2014;14(19):3719-3728. DOI: 10.1039/c4lc00686k
  12. 12. Van Oorschot RAH, Ballantyne KN, Mitchell RJ. Forensic trace DNA: A review. Investigative Genetics. 2010;1:14. DOI: 10.1186/2041-2223-1-14
  13. 13. Lee SB, McCord B, Buel E. Advances in forensic DNA quantification: A review. Electrophoresis. 2014;35(21–22):3044-3052. DOI: 10.1002/elps.201400187
  14. 14. Lounsbury JA, Karlsson A, Miranian DC, et al. From sample to PCR product in under 45 minutes: A polymeric integrated microdevice for clinical and forensic DNA analysis. Lab on a Chip. 2013;13(7):1384-1393. DOI: 10.1039/c3lc41326h
  15. 15. Cox JO, DeCarmen TS, Ouyang Y, et al. A novel, integrated forensic microdevice on a rotation-driven platform: Buccal swab to STR product in less than 2 h. Electrophoresis. 2016;37(23–24):3046-3058. DOI: 10.1002/elps.201600307
  16. 16. Budowle B, Eisenberg AJ, van Daal A. Validity of low copy number typing and applications to forensic science. Croatian Medical Journal. 2009;50(3):207-217. DOI: 10.3325/cmj.2009.50.207
  17. 17. Butler JM. Chapter 11—Low-level DNA testing: Issues, concerns, and solutions. In: Advanced Topics in Forensic DNA Typing: Methodology. Waltham, San Diego: Academic Press; 2012. pp. 311-346. ISBN: 978-0-12-374513-2. DOI: 10.1016/B978-0-12-374513-2.00011-7
  18. 18. Alaeddini R, Walsh SJ, Abbas A. Forensic implications of genetic analyses from degraded DNA—A review. Forensic Science International. Genetics. 2010;4(3):148-157. DOI: 10.1016/j.fsigen.2009.09.007
  19. 19. Tvedebrink T, Eriksen PS, Mogensen HS, Morling N. Statistical model for degraded DNA samples and adjusted probabilities for allelic drop-out. Forensic Science International. Genetics. 2012;6(1):97-101. DOI: 10.1016/j.fsigen.2011.03.001
  20. 20. Gill P, Brenner CH, Buckleton JS, et al. DNA commission of the International Society of Forensic Genetics: Recommendations on the interpretation of mixtures. Forensic Science International. 2006;160(2–3):90-101. DOI: 10.1016/j.forsciint.2006.04.009
  21. 21. Tvedebrink T, Eriksen PS, Mogensen HS, Morling N. Identifying contributors of DNA mixtures by means of quantitative information of STR typing. Journal of Computational Biology. 2012;19(7):887-902. DOI: 10.1089/cmb.2010.0055
  22. 22. Gill P, Gusmão L, Haned H, Mayr WR, et al. DNA commission of the International Society of Forensic Genetics: Recommendations on the evaluation of STR typing results that may include drop-out and/or drop-in using probabilistic methods. Forensic Science International. Genetics. 2012;6(6):679-688. DOI: 10.1016/j.fsigen.2012.06.002
  23. 23. Pascali V, Prinz M. Highlights of the conference ‘The hidden side of DNA profiles: Artifacts, errors and uncertain evidence’. Forensic Science International. Genetics. 2012;6(6):775-777. DOI: 10.1016/j.fsigen.2012.08.011
  24. 24. Greenspoon SA, Ban JD, Sykes K, et al. Application of the BioMek 2000 Laboratory Automation Workstation and the DNA IQ System to the extraction of forensic casework samples. Journal of Forensic Sciences. 2004;49:29-39. DOI: 10.1520/JFS2003179
  25. 25. Frégeau CJ, Lett CM, Fourney RM. Validation of a DNA IQ™-based extraction method for TECAN robotic liquid handling workstations for processing casework. Forensic Science International. Genetics. 2010;4:292-304. DOI: 10.1016/j.fsigen.2009.11.001
  26. 26. Wiegand P, Kleiber M. Less is more—Length reduction of STR amplicons using redesigned primers. International Journal of Legal Medicine. 2001;114:285-287. DOI: 10.1007/s004140000162
  27. 27. Grubwieser P, Mühlmann R, Berger B, et al. A new “mini-STR-multiplex” displaying reduced amplicon lengths for the analysis of degraded DNA. International Journal of Legal Medicine. 2006;120:115-120. DOI: 10.1007/s00414-005-0013-6
  28. 28. Parsons TJ, Huel R, Davoren J, et al. Application of novel ‘mini-amplicon’ STR multiplexes to high volume casework on degraded skeletal remains. Forensic Science International. Genetics. 2007;1:175-179. DOI: 10.1016/j.fsigen.2007.02.003
  29. 29. Primorac D, Andelinovic S, Definis-Gojanovic M, et al. Identification of war victims from mass graves in Croatia, Bosnia and Herzegovina by the use of standard forensic methods and DNA testing. Journal of Forensic Sciences. 1996;41:891-894. DOI: 10.1520/JFS14019J
  30. 30. Baeta M, Núñez C, Cardoso S, et al. Digging up the recent Spanish memory: Genetic identification of human remains from mass graves of the Spanish Civil War and posterior dictatorship. Forensic Science International. Genetics. 2015;19:272-279. DOI: 10.1016/j.fsigen.2015.09.001
  31. 31. Ossowski A, Diepenbroek M, Zwolski M, et al. A case study of an unknown mass grave—Hostages killed 70 years ago by a Nazi firing squad identified thanks to genetics. Forensic Science International. 2017;278:173-176. DOI: 10.1016/j.forsciint.2017.06.038
  32. 32. Hellman A, Rohleder U, Schmitter H, Wittig M. STR typing of human telogen hairs—A new approach. International Journal of Legal Medicine. 2001;114:269-273. DOI: 10.1007/s004140000175
  33. 33. Grzybowski T, Malyarchuk B, Czarny J, et al. High levels of mitochondrial DNA heteroplasmy in single hair roots: Reanalysis and revision. Electrophoresis. 2003;24(7–8):1159-1165. DOI: 10.1002/elps.200390149
  34. 34. Matte M, Williams L, Frappier R, Newman J. Prevalence and persistence of foreign DNA beneath fingernails. Forensic Science International. Genetics. 2012;6(2):236-243. DOI: 10.1016/j.fsigen.2011.05.008
  35. 35. Ottens R, Taylor D, Linacre A. DNA profiles from fingernails using direct PCR. Forensic Science, Medicine, and Pathology. 2015;11:99. DOI: 10.1007/s12024-014-9626-8
  36. 36. Sweet D, Lorente JA, Valenzuela A, et al. PCR-based DNA typing of saliva stains recovered from human skin. Journal of Forensic Sciences. 1997;42:447-451. DOI: 10.1520/JFS14146J
  37. 37. Kenna J, Smyth M, McKenna L, et al. The recovery and persistence of salivary DNA on human skin. Journal of Forensic Sciences. 2011;56(1):170-175. DOI: 10.1111/j.1556-4029.2010.01520.x
  38. 38. Van Oorschot RAH, Jones MK. DNA fingerprints from fingerprints. Nature. 1997;387:767. DOI: 10.1038/42838
  39. 39. Wiegand P, Kleiber M. DNA typing of epithelial cells after strangulation. International Journal of Legal Medicine. 1997;110(4):181-183. DOI: 10.1007/s004140050063
  40. 40. Eichmann C, Berger B, Reinhold M, et al. Canine-specific STR typing of saliva traces on dog bite wounds. International Journal of Legal Medicine. 2004;118:337-342. DOI: 10.1007/s00414-004-0479-7
  41. 41. Sambrook J, Fritsch EF, Maniatis T. Molecular Cloning: A Laboratory Manual. New York: CSHL Press; 1989. ISBN 0879693096
  42. 42. Chomczynski P, Sacchi N. The single-step method of RNA isolation by acid guanidinium thiocyanate-phenol-chloroform extraction: Twenty-something years on. Nature Protocols. 2006;1(2):581-585. DOI: 10.1038/nprot.2006.83
  43. 43. Comey C, Koons B, Presley K, et al. DNA extraction strategies for amplified fragment length polymorphism analysis. Journal of Forensic Sciences. 1994;39(5):1254-1269. DOI: 10.1520/JFS13711J
  44. 44. Hudlow WR, Krieger R, Meusel M, et al. The NucleoSpin® DNA clean-up XS kit for the concentration and purification of genomic DNA extracts: An alternative to microdialysis filtration. Forensic Science International. Genetics. 2011;5(3):226-230. DOI: 10.1016/j.fsigen.2010.03.005
  45. 45. Doran AE, Foran DR. Assessment and mitigation of DNA loss utilizing centrifugal filtration devices. Forensic Science International. Genetics. 2014;13:187-190. DOI: 10.1016/j.fsigen.2014.08.001
  46. 46. Maciejewska A, Wlodarczyk R, Pawlowski R. The influence of high temperature on the possibility of DNA typing in various human tissues. Folia Histochemica et Cytobiologica. 2015;53(4):322-332. DOI: 10.5603/fhc.a2015.0029
  47. 47. McCormick RM. A solid-phase extraction procedure for DNA purification. Analytical Biochemistry. 1989;181(1):66-74. DOI: 10.1016/0003-2697(89)90394-1
  48. 48. Greenspoon SA, Scarpetta MA, Drayton ML, Turek SA. QIAamp spin columns as a method of DNA isolation for forensic casework. Journal of Forensic Sciences. 1998;43(5):1024-1030. DOI: 10.1520/JFS14351J
  49. 49. Willard JM, Lee DA, Holland MM. Recovery of DNA for PCR amplification from blood and forensic samples using a chelating resin. Methods in Molecular Biology. 1998;98:9-18. DOI: 10.1385/0-89603-443-7:9
  50. 50. Idris B, Goodwin W. Comparison of Chelex®-100 with two solid phase DNA extraction techniques. Forensic Science International: Genetics Supplement Series. 2015;5:e274-e275. DOI: 10.1016/j.fsigss.2015.09.109
  51. 51. Pîrlea S, Puiu M, Răducan A, Oancea D. Permanganate-assisted removal of PCR inhibitors during the DNA Chelex extraction from stained denim samples. International Journal of Legal Medicine. 2017;131:323-331. DOI: 10.1007/s00414-016-1443-z
  52. 52. Deggerdal A, Larsen F. Rapid isolation of PCR-ready DNA from blood, bone marrow and cultured cells, based on paramagnetic beads. BioTechniques. 1997 Mar;22(3):554-557
  53. 53. Saiyed ZM, Bochiwal C, Gorasia H, et al. Application of magnetic particles (Fe3O4) for isolation of genomic DNA from mammalian cells. Analytical Biochemistry. 2006;356(2):306-308. DOI: 10.1016/j.ab.2006.06.027
  54. 54. Xenophontos S, Christofi V, Iosif G, et al. Internal validation of the QIAamp DNA Investigator Kit, QIAamp 96 DNA Swab BioRobot Kit and the BioRobot Universal System for DNA extraction from reference and crime scene samples. Forensic Science International. Genetics. 2015;14:e8-10. DOI: 10.1016/j.fsigen.2014.10.020
  55. 55. Ip SC, Lin SW, Lai KM. An evaluation of the performance of five extraction methods: Chelex® 100, QIAamp® DNA Blood Mini Kit, QIAamp® DNA Investigator Kit, QIAsymphony® DNA Investigator® Kit and DNA IQ™. Science & Justice. 2015;55(3):200-208. DOI: 10.1016/j.scijus.2015.01.005
  56. 56. Le Roux D, Root BE, Hickey JA, et al. An integrated sample-in-answer-out microfluidic chip for rapid human identification by STR analysis, Lab on a Chip. 2014;14(22):4415-4425. DOI: 10.1039/c4lc00685b
  57. 57. Shin Y, Swee YL, Lee TY, Park MK. Dimethyl adipimidate/thin film sample processing (DTS); a simple, low-cost, and versatile nucleic acid extraction assay for downstream analysis. Scientific Reports. 2015;5:4127. DOI: 10.1038/srep14127
  58. 58. Gan W, Gu Y, Han J, Li CX. Chitosan-modified filter paper for nucleic acid extraction and “in situ PCR” on a thermoplastic microchip. Analytical Chemistry. 2017;89(6):3568-3575. DOI: 10.1021/acs.analchem.6b04882
  59. 59. Wiegand P, Schürenkamp M, Schütte U. DNA extraction from mixtures of body fluid using mild preferential lysis. International Journal of Legal Medicine. 1992;104(6):359-360. DOI: 10.1007/BF01369558
  60. 60. Yoshida K, Sekiguchi K, Mizuno N, et al. The modified method of two-step differential extraction of sperm and vaginal epithelial cell DNA from vaginal fluid mixed with semen. Forensic Science International. 1995;72(1):25-33. DOI: 10.1016/0379-0738(94)01668-U
  61. 61. Lounsbury JA, Nambiar SM, Karlsson A, et al. Enhanced recovery of spermatozoa and comprehensive lysis of epithelial cells from sexual assault samples having a low cell counts or aged up to one year. Forensic Science International. Genetics. 2014;8(1):84-89. DOI: 10.1016/j.fsigen.2013.06.015
  62. 62. Klein SB, Buoncristiani MR. Evaluating the efficacy of DNA differential extraction methods for sexual assault evidence. Forensic Science International. Genetics. 2017;29:109-117. DOI: 10.1016/j.fsigen.2017.03.021
  63. 63. Caputo M, Irisarri M, Alechine E, Corach D. A DNA extraction method of small quantities of bone for high-quality genotyping. Forensic Science International. Genetics. 2013;7(5):488-493. DOI: 10.1016/j.fsigen.2013.05.002
  64. 64. Damgaard PDB, Margaryan A, Schroeder H, et al. Improving access to endogenous DNA in ancient bones and teeth. Scientific Reports. 2015;5:11184. DOI: 10.1038/srep11184
  65. 65. Uzair A, Rasool N, Wasim M. Evaluation of different methods for DNA extraction from human burnt bones and the generation of genetic profiles for identification. Medicine, Science, and the Law. 2017;1:25802417723808. DOI: 10.1177/0025802417723808
  66. 66. Gilbert MT, Haselkorn T, Bunce M, et al. The isolation of nucleic acids from fixed, paraffin-embedded tissues-which methods are useful when? PLoS One. 2007;20(6):e537. DOI: 10.1371/journal.pone.0000537
  67. 67. Tomonari K, Sonoda A, Ikehara A, et al. Comparison of methods for the extraction of DNA from formalin-fixed paraffin-embedded tissues for human identification. Japanese Journal of Forensic Science and Technology. 2017. Article ID: 734. DOI: http://doi.org/10.3408/jafst.734
  68. 68. Reid KM, Maistry S, Ramesar R, Heathfield LJ. A review of the optimisation of the use of formalin fixed paraffin embedded tissue for molecular analysis in a forensic post-mortem setting. Forensic Science International. 2017;280:181-187. DOI: https://doi.org/10.1016/j.forsciint.2017.09.020
  69. 69. Harper KA, Meiklejohn KA, Merritt RT, et al. Isolation of mitochondrial DNA from single, short hairs without roots using pressure cycling technology. SLAS Technology. 2018;23(1):97-105. DOI: 10.1177/2472630317732073
  70. 70. Hebda LM, Doran AE, Foran DR. Collecting and analyzing DNA evidence from fingernails: A comparative study. Journal of Forensic Sciences. 2014;59(5):1343-1350. DOI: 10.1111/1556-4029.12465
  71. 71. Ostojic L, Wurmbach E. Analysis of fingerprint samples, testing various conditions, for forensic DNA identification. Science & Justice. 2017;57(1):35-40. DOI: 10.1016/j.scijus.2016.08.009
  72. 72. Solomon AD, Hytinen ME, McClain AM, et al. An optimized DNA analysis workflow for the sampling, extraction, and concentration of DNA obtained from archived latent fingerprints. Journal of Forensic Sciences. 2018;63(1):47-57. DOI: 10.1111/1556-4029.13504
  73. 73. Habib M, Pierre-Noel A, Fogt F, et al. Direct amplification of biological evidence and DVI samples using the Qiagen investigator 24plex GO! Kit. Genetics. Forensic Science International: Genetics Supplement Series. 2017;6:e208-e210. DOI: 10.1016/j.fsigss.2017.09.079
  74. 74. Moreno LI, McCord BR. The use of direct analysis in real time (DART) to assess the levels of inhibitors co-extracted with DNA and the associated impact in quantification and amplification. Electrophoresis. 2016;37(21):2807-2816. DOI: 10.1002/elps.201500480
  75. 75. Kumar D, Panigrahi MK, Suryavanshi M, et al. Quantification of DNA extracted from formalin fixed paraffin-embeded tissue comparison of three techniques: Effect on PCR efficiency. Journal of Clinical and Diagnostic Research. 2016;10(9):BC01-BC03. DOI: 10.7860/JCDR/2016/19383.8407
  76. 76. Goecker ZC, Swiontek SE, Lakhtakia A, Roy R. Comparison of Quantifiler(®) trio and InnoQuant™ human DNA quantification kits for detection of DNA degradation in developed and aged fingerprints. Forensic Science International. 2016;263:132-138. DOI: 10.1016/j.forsciint.2016.04.009
  77. 77. Josefiova J, Matura R, Votrubova J, et al. Comparison of fluorometric and real-time PCR quantification of DNA extracted from formalin fixed tissue Forensic Science International: Genetics Supplement Series. 2017;6:e137-e139. DOI: http://dx.doi.org/10.1016/j.fsigss.2017.09.028
  78. 78. Ambers A, Wiley R, Novroski N, Budowle B. Direct PCR amplification of DNA from human bloodstains, saliva, and touch samples collected with microFLOQ®swabs. Forensic Science International. Genetics. 2018;32:80-87. DOI: https://doi.org/10.1016/j.fsigen.2017.10.010
  79. 79. Salceda S, Barican A, Buscaino J, et al. Validation of a rapid DNA process with the RapidHIT® ID system using GlobalFiler® express chemistry, a platform optimized for decentralized testing environments. Forensic Science International. Genetics. 2017;28:21-34. DOI: 10.1016/j.fsigen.2017.01.005
  80. 80. Moreno LI, Brown AL, Callaghan TF. Internal validation of the DNAscan/ANDE™ rapid DNA analysis™ platform and its associated PowerPlex® 16 high content DNA biochip cassette for use as an expert system with reference buccal swabs. Forensic Science International. Genetics. 2017;29:100-108. DOI: 10.1016/j.fsigen.2017.03.022
  81. 81. ScienceDirect® of Elsevier B.V. Polymerase chain reaction. [Internet]. Available from: http://www.sciencedirect.com/topics/biochemistry-genetics-and-molecular-biology/polymerase-chain-reaction [Accessed: 2017.10.10]
  82. 82. Butler JM. Chapter 4—PCR Amplification: Capabilities and Cautions. In: Advanced Topics in Forensic DNA Typing: Methodology. Academic Press; 2012. pp. 69-97. ISBN: 978-0-12-374513-2. DOI: 10.1016/B978-0-12-374513-2.00004-X
  83. 83. Westen AA, Grol LJ, Harteveld J, et al. Assessment of the stochastic threshold, back- and forward stutter filters and low template techniques for NGM. Forensic Science International. Genetics. 2012;6(6):708-715. DOI: 10.1016/j.fsigen.2012.05.001
  84. 84. Gill P, Haned H, Bleka O, et al. Genotyping and interpretation of STR-DNA: Low-template, mixtures and database matches-twenty years of research and development. Forensic Science International. Genetics. 2015;18:100-117. DOI: 10.1016/j.fsigen.2015.03.014
  85. 85. Laos R, Thomson JM, Benner SA. DNA polymerases engineered by directed evolution to incorporate non-standard nucleotides. Frontiers in Microbiology. 2014;5:565. DOI: 10.3389/fmicb.2014.00565
  86. 86. Grogan DW. Proteins of DNA replication from extreme thermophiles: PCR and beyond. In: Rampelotto P, editor. Biotechnology of Extremophiles: Grand Challenges in Biology and Biotechnology. Vol. 1. Cham: Springer; 2016. pp. 525-538. DOI: 10.1007/978-3-319-13521-2_18
  87. 87. Goodchild J. Conjugates of oligonucleotides and modified oligonucleotides: A review of their synthesis and properties. Bioconjugate Chemistry. 1990;1(3):165-187. DOI: 10.1021/bc00003a001
  88. 88. Ballantyne KN, van Oorschot RA, Mitchell RJ. Increased amplification success from forensic samples with locked nucleic acids. Forensic Science International. Genetics. 2011;5(4):276-280. DOI: 10.1016/j.fsigen.2010.04.001
  89. 89. Sullivan KM, Pope S, Gill P, Robertson JM. Automated DNA profiling by fluorescent labeling of PCR products. PCR Methods and Applications. 1992;2(1):34-40. DOI: 10.1101/gr.2.1.34
  90. 90. GlobalFiler™ Express PCR Amplification Kit USER GUIDE Catalog Numbers 4476609 and 4474665 Publication Number 4477672 Revision E. [Internet]. Available from: https://tools.thermofisher.com/content/sfs/manuals/4477604.pdf [Accessed: 2017.10.10]
  91. 91. Bock JH, Slightom JL. 32P- and fluorescence-labeled DNA sequencing using primers selected from nonamer library. In: Adolph KW, editor. Methods in Molecular Genetics. Vol. 8. Human Molecular Genetics. San Diego, New York, Boston: Academic Press; 1996. pp. 246-257. ISBN: 9780080536415. DOI: 10.1016/S1067-2389(96)80046-X
  92. 92. Shao K, Ding W, Wang F, et al. Emulsion PCR: A high efficient way of PCR amplification of random DNA libraries in aptamer selection. PLoS One. 2011;6(9):e24910. DOI: 10.1371/journal.pone.0024910
  93. 93. Kadokami Y, Lewis RV. Membrane bound PCR. Nucleic Acids Research. 1990;18(10):3082
  94. 94. Palanisamy R, Connolly AR, Trau M. Considerations of solid-phase DNA amplification. Bioconjugate Chemistry. 2010;21(4):690-695. DOI: 10.1021/bc900491s
  95. 95. Tawfik DS, Griffiths AD. Man-made cell-like compartments for molecular evolution. Nature Biotechnology. 1998;16:652-656
  96. 96. Kanagal-Shamanna R. Emulsion PCR: Techniques and Applications. In: Luthra R, Singh R, Patel K, editors. Clinical Applications of PCR. Methods in Molecular Biology. Vol. 1392. New York, NY: Humana Press; 2016. pp. 33-42. DOI: 10.1007/978-1-4939-3360-0_4
  97. 97. Mansfield ES, Robertson JM, Vainer M, et al. Analysis of multiplexed short tandem repeat (STR) systems using capillary array electrophoresis. Electrophoresis. 1998;19:101-107. DOI: 10.1002/elps.1150190118
  98. 98. Collins PJ, Hennessy LK, Leibelt CS, et al. Developmental validation of a single-tube amplification of the 13 CODIS STR loci, D2S1338, D19S433, and amelogenin: The AmpFlSTR Identifiler PCR Amplification Kit. Journal of Forensic Sciences. 2004;49(6):1265-1277. DOI: 10.1520/JFS2002195
  99. 99. Higuchi R, Fockler C, Dollinger G, Watson R. Kinetic PCR analysis: Real-time monitoring of DNA amplification reactions. Nature Biotechnology. 1993;11:1026-1030. DOI: 10.1038/nbt0993-1026
  100. 100. Shi MM, Myrand SP, Bleavins MR, de la Iglesia FA. High throughput genotyping for the detection of a single nucleotide polymorphism in NAD(P)H quinone oxidoreductase (DT diaphorase) using TaqMan probes. Molecular Pathology. 1999;52(5): 295–299. DOI: http://dx.doi.org/10.1136/mp.52.5.295
  101. 101. Romsos EL, Vallone PM. Rapid PCR of STR markers: Applications to human identification. Forensic Science International. Genetics. 2015;18:90-99. DOI: 10.1016/j.fsigen.2015.04.008
  102. 102. Cavanaugh SE et al. Direct PCR amplification of forensic touch and other challenging DNA samples: A review. Forensic Science International. Genetics. 2017;32:40-49. DOI: 10.1016/j.fsigen.2017.10.005
  103. 103. Sanger F, Nicklen S, Coulson AR. DNA sequencing with chain-terminating inhibitors. Proceedings of the National Academy of Sciences of the United States of America. 1977;74(12):5463-5467
  104. 104. Ronaghi M, Karamohamed S, Pettersson B, et al. Real-time DNA sequencing using detection of pyrophosphate release. Analytical Biochemistry. 1996;242(1):84-89. DOI: 10.1006/abio.1996.0432
  105. 105. Timp W, Mirsaidov UM, Wang D, et al. Nanopore sequencing: Electrical measurements of the code of life. IEEE Transactions on Nanotechnology. 2010;9(3):281-294. DOI: 10.1109/TNANO.2010.2044418
  106. 106. Børsting C, Morling N. Next generation sequencing and its applications in forensic genetics. Forensic Science International. Genetics. 2015;18:78-89. DOI: 10.1016/j.fsigen.2015.02.002
  107. 107. Next-Generation Sequencing – An Overview of the History, Tools, and “Omic” Applications. In: Kulski JK. editor: Next Generation Sequencing—Advances, Applications and Challenges. Intech, 2016. p. 3–60. DOI: 10.5772/61964. Available from: https://www.intechopen.com/books/next-generation-sequencing-advances-applications-and-challenges/next-generation-sequencing-an-overview-of-the-history-tools-and-omic-applications
  108. 108. Butler JM, Coble MD, Vallone PM. STRs vs. SNPs: Thoughts on the future of forensic DNA testing. Forensic Science, Medicine, and Pathology. 2007;3(3):200-205. DOI: 10.1007/s12024-007-0018-1
  109. 109. Budowle B, Churchill JD, King JL. Chapter 13—The next state-of-the-art forensic genetics technology: Massively parallel sequencing. In: Amorim A, Budowle B, editors. Handbook of Forensic Genetics: Biodiversity and Heredity in Civil and Criminal Investigation. New Jersey: World Scientific. 2017. p. 249-291. ISBN: 978-1-78634-079-5. DOI: 10.1142/9781786340788_0013
  110. 110. Brion M, Sobrino B, Martinez M, et al. Massive parallel sequencing applied to the molecular autopsy in sudden cardiac death in the young. Forensic Science International. Genetics. 2015;18:160-170. DOI: 10.1016/j.fsigen.2015.07.010
  111. 111. Dos Santos Rocha A, de Amorim ISS, Simão TA, et al. High-resolution melting (HRM) of hypervariable mitochondrial DNA regions for forensic science. Journal of Forensic Sciences. 2017. DOI: 10.1111/1556-4029.13552 [Epub ahead of print]
  112. 112. Bruijns B, van Asten A, Tiggelaar R, Gardeniers H. Microfluidic devices for forensic DNA analysis: A review. Caputo D, editor. Biosensors. 2016;6(3):41. DOI: 10.3390/bios6030041
  113. 113. Yang J, Brooks C, Estes MD, et al. An integratable microfluidic cartridge for forensic swab samples lysis. Forensic Science International: Genetics. 2014;8(1):147-158. DOI: 10.1016/j.fsigen.2013.08.012
  114. 114. Kim YT, Heo HY, Oh SH, et al. Microchip-based forensic short tandem repeat genotyping. Electrophoresis. 2015;36(15):1728-1737. DOI: 10.1002/elps.201400477
  115. 115. Han JP, Sun J, Wang L, et al. The optimization of electrophoresis on a glass microfluidic chip and its application in forensic science. Journal of Forensic Sciences. 2017;62(6):1603-1612. DOI: 10.1111/1556-4029.13408
  116. 116. Jovanovich S, Bogdan G, Belcinski R, et al. Developmental validation of a fully integrated sample-to-profile rapid human identification system for processing single-source reference buccal samples. Forensic Science International. Genetics. 2015;16:181-194. DOI: 10.1016/j.fsigen.2014.12.004
  117. 117. Mapes AA, Kloosterman AD, Poot CJ, van Marion V. Objective data on DNA success rates can aid the selection process of crime samples for analysis by rapid mobile DNA technologies. Forensic Science International. 2016;264:28-33. DOI: 10.1016/j.forsciint.2016.03.020
  118. 118. Boiso S, Dalin E, Seidlitz H, et al. RapidHIT for the purpose of stain analyses—An interrupted implementation Forensic Science International: Genetics Supplement Series. 2017;6:e589-e590. DOI: http://dx.doi.org/10.1016/j.fsigss.2017.10.002
  119. 119. Primrose SB, Twyman RM. Chapter 2—The organization and structure of genomes. In: Principles of Genome Analysis and Genomics. Blackwell Publishing, 3rd ed. 2003. p. 10–33. ISBN: 978-1-4443-1128-0
  120. 120. Budowle B, Chakraborty R, Giusti AM, et al. Analysis of the VNTR locus D1S80 by the PCR followed by high-resolution PAGE. American Journal of Human Genetics. 1991;48:137-144
  121. 121. Woller J, Furedi S, Padar Z. AMPFLP analysis of the VNTR loci D1S80 and ApoB in Hungary. International Journal of Legal Medicine. 1995;107(5):273-274. DOI: 10.1007/BF01245488
  122. 122. Walsh PS, Erlich HA, Higuchi R. Preferential PCR amplification of alleles: Mechanisms and solutions. PCR Methods and Applications. 1992;1(4):241-250. DOI: 10.1101/gr.1.4.241
  123. 123. Ellegren H. Microsatellites: Simple sequences with complex evolution. Nature Reviews. Genetics. 2004;5(6):435-445. DOI: 10.1038/nrg1348
  124. 124. Urquhart A, Kimpton CP, Downes TJ, Gill P. Variation in short tandem repeat sequences—A survey of twelve microsatellite loci for use as forensic identification markers. International Journal of Legal Medicine. 1994;107(1):13-20. DOI: https://doi.org/10.1007/BF01247268
  125. 125. Edwards A, Civitello A, Hammond HA, Caskey CT. DNA typing and genetic mapping with trimeric and tetrameric tandem repeats. American Journal of Human Genetics. 1991;49(4):746-756
  126. 126. Van Oorschot RAH, Gutowski SJ, Robinson SL. HUMTH01: Amplification, species specificity, population genetics and forensic applications. International Journal of Legal Medicine. 1994;107:121-126. DOI: https://doi.org/10.1007/BF01225598
  127. 127. Furedi S, Woller J, Padar Z. Hungarian population data for the STR systems TH01 and VWA. International Journal of Legal Medicine. 1995;108(1):48-49. DOI: https://doi.org/10.1007/BF01845619
  128. 128. Kimpton C, Fisher D, Watson S, et al. Evaluation of an automated DNA profiling system employing multiplex amplification of four tetrameric STR loci. International Journal of Legal Medicine. 1994;106(6):302-311. DOI: https://doi.org/10.1007/BF01224776
  129. 129. Füredi S, Budowle B, Woller J, Pádár Z. Hungarian population data on six STR loci—HUMVWFA31, HUMTH01, HUMCSF1PO, HUMFES/FPS, HUMTPOX, and HUMHPRTB—Derived using multiplex PCR amplification and manual typing. International Journal of Legal Medicine. 1996;109:100-101. DOI: https://doi.org/10.1007/BF01355526
  130. 130. Füredi S, Angyal M, Kozma Z, et al. Semi-automatic DNA profiling in a Hungarian Romany population using the STR loci HumVWFA31, HumTH01, HumTPOX, and HumCSF1PO. International Journal of Legal Medicine. 1997;110(4):184-187. DOI: 10.1007/s004140050064
  131. 131. Butler JM. Chapter 5—Commonly used short tandem repeat markers and commercial kits. In: Forensic DNA Typing: Biology, Technology, and Genetics of STR Markers. 2nd ed. Academic Press; 2005. pp. 85-121. ISBN: 9780080470610
  132. 132. Egyed B, Füredi S, Angyal M, et al. Analysis of eight STR loci in two Hungarian populations. Forensic Science International. 2000;113(1–3):25-27. DOI: 10.1016/S0379-0738(00)00191-2
  133. 133. Frank WE, Llewellyn BE, Fish PA, et al. Validation of the AmpFlSTR Profiler Plus PCR amplification kit for use in forensic casework. Journal of Forensic Sciences. 2001;46(3):642-646
  134. 134. Gettings KB, Aponte RA, Vallone PM, Butler JM. STR allele sequence variation: Current knowledge and future issues. Forensic Science International. Genetics. 2015;18:118-130. DOI: 10.1016/j.fsigen.2015.06.005
  135. 135. Comey CT, Budowle B. Validation studies on the analysis of the HLA DQ alpha locus using the polymerase chain reaction. Journal of Forensic Sciences. 1991;36(6):1633-1648
  136. 136. Budowle B, Woller J, Koons BW, et al. Hungarian population data on seven PCR-based loci. Journal of Forensic Sciences. 1996;41(4):667-670. DOI: 10.1520/JFS13975J
  137. 137. Gross AM, Guerrieri RA. HLA DQA1 and Polymarker validations for forensic casework: Standard specimens, reproducibility, and mixed specimens. Journal of Forensic Sciences. 1996;41(6):1022-1026
  138. 138. Dimo-Simonin N, Brandt-Casadevall C. Evaluation and usefulness of reverse dot blot DNA-PolyMarker typing in forensic case work. Forensic Science International. 1996;81(1):61-72
  139. 139. Syvänen AC, Sajantila A, Lukka M. Identification of individuals by analysis of biallelic DNA markers, using PCR and solid-phase minisequencing. American Journal of Human Genetics. 1993;52(1):46-59
  140. 140. Nachman MW, Crowell SL. Estimate of the mutation rate per nucleotide in humans. Genetics. 2000;156(1):297-304
  141. 141. Campbell CD, Chong JX, Malig M, et al. Estimating human mutation rate using autozygosity in a founder population. Nature Genetics. 2012;44(11):1277-1281. DOI: 10.1038/ng.2418
  142. 142. Sanchez JJ, Phillips C, Børsting C, et al. A multiplex assay with 52 single nucleotide polymorphisms for human identification. Electrophoresis. 2006;27(9):1713-1724. DOI: 10.1002/elps.200500671
  143. 143. DLT A, Dennis SE, Salvador JM, et al. Comparison of two massively parallel sequencing platforms using 83 single nucleotide polymorphisms for human identification. Scientific Reports. 2017;7:398. DOI: 10.1038/s41598-017-00510-3
  144. 144. Zhang S, Bian Y, Chen A, et al. Developmental validation of a custom panel including 273 SNPs for forensic application using ion torrent PGM. Forensic Science International. Genetics. 2017;27:50-57. DOI: 10.1016/j.fsigen.2016.12.003
  145. 145. Gymrek M, Willems T, Reich D, Erlich Y. Interpreting short tandem repeat variations in humans using mutational constraint. Nature Genetics. 2017;49(10):1495-1501. DOI: 10.1038/ng.3952
  146. 146. Lang M, Ye Y, Li J, et al. Comprehensive mutation analysis of 53 Y-STR markers in father-son pairs Forensic Science International: Genetics Supplement Series. 2017; DOI: http://dx.doi.org/10.1016/j.fsigss.2017.09.004
  147. 147. Butler JM. Chapter 13—Y-Chromosome DNA Testing. In: Advanced Topics in Forensic DNA Typing: Methodology. Waltham, San Diego: Academic Press; 2012. pp. 371-403. ISBN: 978-0-12-374513-2. DOI: 10.1016/B978-0-12-374513-2.00013-0
  148. 148. Butler JM. Chapter 14—Mitochondrial DNA Analysis. In: Advanced Topics in Forensic DNA Typing: Methodology. Waltham, San Diego: Academic Press; 2012. pp. 405-456. ISBN: 978-0-12-374513-2. DOI: 10.1016/B978-0-12-374513-2.00014-2
  149. 149. Ballantyne KN, Kayser M. Additional Y-STRs in forensics: Why, which, and when. In: Stray JE, editor. Forensic DNA Analysis. Current Practices and Emerging Technologies. Boca Raton, London, New York: CRC Press; 2013. pp. 221-245. ISBN: 978-1-4665-7136-5. DOI: 10.1201/b15361-15
  150. 150. McDonald A, Jones E, Lewis J, O'Rourke P. Y-STR analysis of digital and/or penile penetration cases with no detected spermatozoa. Forensic Science International. Genetics. 2015;15:84-89. DOI: 10.1016/j.fsigen.2014.10.015
  151. 151. Hampikian G, Peri G, Lo SS, et al. Case report: Coincidental inclusion in a 17-locus Y-STR mixture, wrongful conviction and exoneration. Forensic Science International. Genetics. 2017;31:1-4. DOI: 10.1016/j.fsigen.2017.08.004
  152. 152. Ruitberg CM, Reeder DJ, Butler JM. STRBase: A short tandem repeat DNA database for the human identity testing community. Nucleic Acids Research. 2001;29(1):320-322
  153. 153. Willuweit S, Roewer L. Y chromosome haplotype reference database (YHRD): Update. Forensic Science International. Genetics. 2007;1(2):83-87. DOI: 10.1016/j.fsigen.2007.01.017
  154. 154. Parson W, Dür A. EMPOP—A forensic mtDNA database. Forensic Science International. Genetics. 2007;1(2):88-92. DOI: 10.1016/j.fsigen.2007.01.018
  155. 155. Kayser M. Forensic use of Y-chromosome DNA: A general overview. Human Genetics. 2017;136(5):621-635. DOI: 10.1007/s00439-017-1776-9
  156. 156. Shriver MD, Kittles RA. Genetic ancestry and the search for personalized genetic histories. Nature Reviews. Genetics. 2004;5(8):611-618. DOI: 10.1038/nrg1405
  157. 157. Calafell F, Larmuseau MHD. The Y chromosome as the most popular marker in genetic genealogy benefits interdisciplinary research. Human Genetics. 2017;136(5):559-573. DOI: 10.1007/s00439-016-1740-0
  158. 158. Ermini L, Olivieri C, Rizzi E, et al. Complete mitochondrial genome sequence of the Tyrolean iceman. Current Biology. 2008;18(21):1687-1693. DOI: 10.1016/j.cub.2008.09.028
  159. 159. Jobling MA, Tyler-Smith C. Human Y-chromosome variation in the genome-sequencing era. Nature Reviews. Genetics. 2017;18(8):485-497. DOI: 10.1038/nrg.2017.36
  160. 160. YHRD – Y-Chromosome Reference Haplotype Database 4.0. [Internet]. Available from: https://yhrd.org [Accessed: 2017.10.10]
  161. 161. Turrina S, Caratti S, Ferrian M, De Leo D. Are rapidly mutating Y-short tandem repeats useful to resolve a lineage? Expanding mutability data on distant male relationships. Transfusion. 2016;56(2):533-5388. DOI: 10.1111/trf.13368
  162. 162. Alghafri R, Pajnič Z, Zupanc T, et al. Rapidly mutating Y-STR analyses of compromised forensic samples. International Journal of Legal Medicine. 2017. DOI: 10.1007/s00414-017-1600-z [Epub ahead of print]
  163. 163. Lessig R, Zoledziewska M, Fahr K, et al. Y-SNP-genotyping—A new approach in forensic analysis. Forensic Science International. 2005;154(2–3):128-136. DOI: 10.1016/j.forsciint.2004.09.129
  164. 164. Pamjav H, Fehér T, Németh E, Pádár Z. Brief communication: New Y-chromosome binary markers improve phylogenetic resolution within haplogroup R1a1. American Journal of Physical Anthropology. 2012;149(4):611-615. DOI: 10.1002/ajpa.22167
  165. 165. Qian X, Hou J, Wang Z, et al. Next generation sequencing plus (NGS+) with Y-chromosomal markers for forensic pedigree searches. Scientific Reports. 2017;7(1):11324. DOI: 10.1038/s41598-017-11955-x
  166. 166. Damas J, Amorim A, Gusmãoet L, et al. InDels in Y chromosome haplogroup definition. Forensic Science International: Genetics Supplement Series. 2011;3(1):e178-e179. DOI: 10.1016/j.fsigss.2011.08.089
  167. 167. Wei W, Ayub Q, Chen Y, et al. A calibrated human Y-chromosomal phylogeny based on resequencing. Genome Research. 2013;23(2):388-395. DOI: 10.1101/gr.143198.112
  168. 168. Egyed B, Füredi S, Padar Z. Population genetic study in two Transylvanian populations using forensically informative autosomal and Y-chromosomal STR markers. Forensic Science International. 2006;164(2–3):257-265. DOI: 10.1016/j.forsciint.2005.10.020
  169. 169. Westen AA, Kraaijenbrink T, Clarisse L, et al. Analysis of 36 Y-STR marker units including a concordance study among 2085 Dutch males. Forensic Science International. Genetics. 2015;14:174-181. DOI: 10.1016/j.fsigen.2014.10.012
  170. 170. Gopinath S, Ch Z, Nguyen V, et al. Developmental validation of the Yfiler® plus PCR amplification kit: An enhanced Y-STR multiplex for casework and database applications. Forensic Science International. Genetics. 2016;24:164-175. DOI: 10.1016/j.fsigen.2016.07.006
  171. 171. Anderson S, Bankier AT, Barrell BG, et al. Sequence and organization of the human mitochondrial genome. Nature. 1981;290(5806):457-465. DOI: 10.1038/290457a0
  172. 172. Coble MD, Just RS, O'Callaghan JE, et al. Single nucleotide polymorphisms over the entire mtDNA genome that increase the power of forensic testing in Caucasians. International Journal of Legal Medicine. 2004;118(3):137-146. DOI: 10.1007/s00414-004-0427-6
  173. 173. EMPOP – EDNAP Mitochondrial DNA Population Database, v3/R11. [Internet]. Available from: https://empop.online [Accessed: 2017.10.10]
  174. 174. Gill P, Ivanov PL, Kimpton C, et al. Identification of the remains of the Romanov family by DNA analysis. Nature Genetics. 1994;6(2):130-135. DOI: 10.1038/ng0294-130
  175. 175. Coble MD, Loreille OM, Wadhams MJ, et al. Mystery solved: The identification of the two missing Romanov children using DNA analysis. PLoS One. 2009;4(3):e4838. DOI: https://doi.org/10.1371/journal.pone.0004838
  176. 176. Li M, Schönberg A, Schaefer M, et al. Detecting heteroplasmy from high-throughput sequencing of complete human mitochondrial DNA genomes. American Journal of Human Genetics. 2010;87(2):237-249. DOI: 10.1016/j.ajhg.2010.07.014
  177. 177. Pearce JM. Minding the gap: Frequency of indels in mtDNA control region sequence data and influence on population genetic analyses. Molecular Ecology. 2006;15(2):333-341. DOI: 10.1111/j.1365-294X.2005.02781.x
  178. 178. Jun MA, Purcell H, Showalter L, Aagaard KM. Mitochondrial DNA (mtDNA) sequence variation is largely conserved at birth with rare de novo mutations in neonates. American Journal of Obstetrics and Gynecology. 2015;212(4):530.e1-530.e8. DOI: 10.1016/j.ajog.2015.02.009
  179. 179. Wilson MR, DiZinno JA, Polanskey D, et al. Validation of mitochondrial DNA sequencing for forensic casework analysis. International Journal of Legal Medicine. 1995;108(2):68-74. DOI: https://doi.org/10.1007/BF01369907
  180. 180. Egyed B, Brandstätter A, Irwin JA, et al. Mitochondrial control region sequence variations in the Hungarian population: Analysis of population samples from Hungary and from Transylvania (Romania). Forensic Science International. Genetics. 2007;1(2):158-162. DOI: 10.1016/j.fsigen.2007.03.001
  181. 181. Andréasson H, Nilsson M, Styrman H, et al. Forensic mitochondrial coding region analysis for increased discrimination using pyrosequencing technology. Forensic Science International. Genetics. 2007;1(1):35-43. DOI: 10.1016/j.fsigen.2006.10.002
  182. 182. Bus MM, Karas O, Allen M. Multiplex pyrosequencing of InDel markers for forensic DNA analysis. Electrophoresis. 2016;37(23–24):3039-3045. DOI: 10.1002/elps.201600255
  183. 183. Csősz A, Szécsényi-Nagy A, Csákyová V, et al. Maternal genetic ancestry and legacy of 10(th) century AD Hungarians. Scientific Reports. 2016;6:33446. DOI: 10.1038/srep33446
  184. 184. Cocoş R, Schipor S, Hervella M, et al. Genetic affinities among the historical provinces of Romania and Central Europe as revealed by an mtDNA analysis. BMC Genetics. 2017;18:20. DOI: 10.1186/s12863-017-0487-5
  185. 185. Fendt L, Zimmermann B, Parson DM, Sequencing W. Strategy for the whole mitochondrial genome resulting in high quality sequences. BMC Genomics. 2009;10:139. DOI: 10.1186/1471-2164-10-139
  186. 186. Parson W, Huber G, Moreno L, et al. Massively parallel sequencing of complete mitochondrial genomes from hair shaft samples. Forensic Science International. Genetics. 2015;15:8-15. DOI: 10.1016/j.fsigen.2014.11.009
  187. 187. Just RS, Irwin JA, Parson W. Mitochondrial DNA heteroplasmy in the emerging field of massively parallel sequencing. Forensic Science International. Genetics. 2015;18:131-139. DOI: 10.1016/j.fsigen.2015.05.003
  188. 188. Irwin JA, Just RS, Parson W. Chapter 14: Massively parallel mitochondrial DNA sequencing in forensic genetics: Principles and opportunities. In: Amorim A, Budowle B, editors. Handbook of Forensic Genetics: Biodiversity and Heredity in Civil and Criminal Investigation. New Jersey: World Scientific; 2017. pp. 293-335. ISBN: 978-1-78634-079-5. DOI: 10.1142/9781786340788_0014
  189. 189. Axler-DiPerte G, Bieber FR, Budimlija ZM, et al. Chapter-18 molecular autopsy. In: Primorac D, Schanfield M. editors. Forensic DNA Applications: An Interdisciplinary Perspective. Boca Raton, London, New York: CRC Press. 2014. p. 453–482. ISBN: 9781466580237
  190. 190. Lombardi R. Genetics and sudden death. Current Opinion in Cardiology. 2013;28(3):272-281. DOI: 10.1097/HCO.0b013e32835fb7f3
  191. 191. Lahrouchi N, Behr ER, Bezzina CR. Next-generation sequencing in post-mortem genetic testing of young sudden cardiac death cases. Frontiers in Cardiovascular Medicine. 2016;3:13. DOI: 10.3389/fcvm.2016.00013
  192. 192. Sajantila A, Budowle B. Chapter-16: Molecular Autopsy. In: Amorim A, Budowle B, editors. Handbook of Forensic Genetics: Biodiversity and Heredity in Civil and Criminal Investigation. New Jersey: World Scientific; 2017. pp. 377-413. DOI: https://doi.org/10.1142/9781786340788_0016
  193. 193. Bagnall RD, Crompton DE, Semsarian C. Genetic basis of sudden unexpected death in epilepsy. Frontiers in Neurology. 2017;8:348. DOI: 10.3389/fneur.2017.00348
  194. 194. Wendt FR, Pathak G, Sajantila A, et al. Global genetic variation of select opiate metabolism genes in self-reported healthy individuals. The Pharmacogenomics Journal. 2017. DOI: 10.1038/tpj.2017.13 [Epub ahead of print]
  195. 195. Seidelmann SB, Smith E, Subrahmanyan L, et al. Application of whole exome sequencing in the clinical diagnosis and management of inherited cardiovascular diseases in adults. Circulation. Cardiovascular Genetics. 2017;10(1):e001573. DOI: 10.1161/CIRCGENETICS.116.001573
  196. 196. Butler JM. Chapter 8—DNA databases: Uses and issues. In: Advanced Topics in Forensic DNA Typing: Methodology. Waltham, San Diego: Academic Press; 2012. pp. 213-270. ISBN: 978-0-12-374513-2. DOI: 10.1016/B978-0-12-374513-2.00008-7
  197. 197. Santos F, Machado H. Patterns of exchange of forensic DNA data in the European Union through the Prüm system. Science & Justice. 2017;57(4):307-313. DOI: 10.1016/j.scijus.2017.04.001
  198. 198. Jakovski Z, Jankova Ajanovska R, Stankov A, et al. The power of forensic DNA data bases in solving crime cases Forensic Science International: Genetics Supplement Series. 2017;6:e275-e276. DOI: http://dx.doi.org/10.1016/j.fsigss.2017.09.085
  199. 199. Bodner M, Bastisch I, Butler JM, et al. Recommendations of the DNA Commission of the International Society for Forensic Genetics (ISFG) on quality control of autosomal short tandem repeat allele frequency databasing (STRidER). Forensic Science International. Genetics. 2016;24:97-102. DOI: 10.1016/j.fsigen.2016.06.008
  200. 200. Dembinski GM, Picard CJ. Evaluation of the IrisPlex DNA-based eye color prediction assay in a United States population. Forensic Science International. Genetics. 2014;9:111-117. DOI: 10.1016/j.fsigen.2013.12.003
  201. 201. Maroñas O, Phillips C, Söchtig J, et al. Development of a forensic skin colour predictive test. Forensic Science International. Genetics. 2014;13:34-44. DOI: 10.1016/j.fsigen.2014.06.017
  202. 202. Phillips C. Forensic genetic analysis of bio-geographical ancestry. Forensic Science International. Genetics. 2015;18:49-65. DOI: 10.1016/j.fsigen.2015.05.012
  203. 203. Cheung EYY, Gahan ME, McNevin D. Prediction of biogeographical ancestry from genotype: A comparison of classifiers. International Journal of Legal Medicine. 2017;131(4):901-912. DOI: 10.1007/s00414-016-1504-3
  204. 204. Kayser M. Forensic DNA phenotyping: Predicting human appearance from crime scene material for investigative purposes. Forensic Science International. Genetics. 2015;18:33-48. DOI: 10.1016/j.fsigen.2015.02.003
  205. 205. Mehta B, Daniel R, Phillips C, McNevin D. Forensically relevant SNaPshot® assays for human DNA SNP analysis: A review. International Journal of Legal Medicine. 2017;131(1):21-37. DOI: 10.1007/s00414-016-1490-5
  206. 206. Ambers AD, Churchill JD, King JL, et al. More comprehensive forensic genetic marker analyses for accurate human remains identification using massively parallel DNA sequencing. BMC Genomics. 2016;17(Suppl 9):750. DOI: https://doi.org/10.1186/s12864-016-3087-2
  207. 207. Chaitanya L, Pajnič IZ, Walsh S, et al. Bringing colour back after 70 years: Predicting eye and hair colour from skeletal remains of World War II victims using the HIrisPlex system. Forensic Science International. Genetics. 2017;26:48-57. DOI: 10.1016/j.fsigen.2016.10.004
  208. 208. Sun Q, Jiang L, Zhang G, et al. Twenty-seven continental ancestry-informative SNP analysis of bone remains to resolve a forensic case. Journal of Forensic Research. 2017;1-3. DOI: http://dx.doi.org/10.1080/20961790.2017.1306431
  209. 209. Li CX, Pakstis AJ, Jiang L, et al. A panel of 74 AISNPs: Improved ancestry inference within eastern Asia. Forensic Science International. Genetics. 2016;23:101-110. DOI: 10.1016/j.fsigen.2016.04.002
  210. 210. Pereira V, Mogensen HS, Børsting C, Morling N. Evaluation of the precision ID ancestry panel for crime case work: A SNP typing assay developed for typing of 165 ancestral informative markers. Forensic Science International. Genetics. 2017;28:138-145. DOI: 10.1016/j.fsigen.2017.02.013
  211. 211. Wollstein A, Walsh S, Liu F, et al. Novel quantitative pigmentation phenotyping enhances genetic association, epistasis, and prediction of human eye colour. Scientific Reports. 2017;7:43359. DOI: 10.1038/srep43359
  212. 212. Jäger AC, Alvarez ML, Davis CP, et al. Developmental validation of the MiSeq FGx forensic genomics system for targeted next generation sequencing in forensic DNA casework and database laboratories. Forensic Science International. Genetics. 2017;28:52-70. DOI: 10.1016/j.fsigen.2017.01.011
  213. 213. Zhu Z, Zhang F, Hu H, et al. Integration of summary data from GWAS and eQTL studies predicts complex trait gene targets. Nature Genetics. 2016;48(5):481-487. DOI: 10.1038/ng.3538
  214. 214. Qiao L, Yang Y, Fu P, et al. Genome-wide variants of eurasian facial shape differentiation and a prospective model of DNA based face prediction. bioRxiv:189332. DOI: 10.1101/189332
  215. 215. Freire-Aradas A, Phillips C, Lareu MV. Forensic individual age estimation with DNA: From initial approaches to methylation tests. Journal of Forensic Research. 2017;29(2):121-144
  216. 216. Hong SR, Jung SE, Lee EH, et al. DNA methylation-based age prediction from saliva: High age predictability by combination of 7 CpG markers. Forensic Science International. Genetics. 2017;29:118-125. DOI: 10.1016/j.fsigen.2017.04.006
  217. 217. Berkman BE, Shapiro ZE, Eckstein L, Pike ER. The ethics of large-scale genomic research. In: Collmann J, Matei S, editors. Ethical Reasoning in Big Data. Computational Social Sciences. Cham: Springer; 2016. pp. 53-69. ISBN: 978-3-319-28420-0. DOI: 10.1007/978-3-319-28422-4_5
  218. 218. Scudder N, McNevin D, Kelty SF, et al. Massively parallel sequencing and the emergence of forensic genomics: Defining the policy and legal issues for law enforcement. 2017. DOI: 10.1016/j.scijus.2017.10.001 [Epub ahead of print]
  219. 219. Padar Z, Egyed B, Kontadakis K, et al. Canine STR analyses in forensic practice observation of a possible mutation in a dog hair. International Journal of Legal Medicine. 2002;116:286-288. DOI: 10.1007/s00414-002-0302-2
  220. 220. Dogan KH, Demirci S. Chapter-5: Livestock-Handling Related Injuries and Deaths. In: Javed K, editor. Livestock Production. New York: InTech; 2012. pp. 81-116. DOI: 10.5772/50834
  221. 221. Halverson JL, Basten C. Forensic DNA identification of animal-derived trace evidence: Tools for linking victims and suspects. Croatian Medical Journal. 2005;46(4):598-605
  222. 222. Coyle HM, Lee CL, Lin WY, et al. Forensic botany: Using plant evidence to aid in forensic death investigation. Croatian Medical Journal. 2005;46(4):606-612
  223. 223. Rácz E, Könczöl F, Tóth D, et al. PCR-based identification of drowning: Four case reports. International Journal of Legal Medicine. 2016;130(5):1303-1307. DOI: 10.1007/s00414-016-1359-7
  224. 224. Kanthaswamy S. Review: Domestic animal forensic genetics—Biological evidence, genetic markers, analytical approaches and challenges. Animal Genetics. 2015;46(5):473-484. DOI: 10.1111/age.12335
  225. 225. Menotti-Raymond MA, David VA, O'Brien SJ. Pet cat hair implicates murder suspect. Nature. 1997;386(6627):774. DOI: 10.1038/386774a0
  226. 226. Iyengar A, Hadi S. Use of non-human DNA analysis in forensic science: A mini review. Medicine, Science, and the Law. 2014;54(1):41-50. DOI: 10.1177/0025802413487522
  227. 227. Arenas M, Pereira F, Oliveira M, et al. Forensic genetics and genomics: Much more than just a human affair. PLoS Genetics. 2017;13(9):e1006960. DOI: 10.1371/journal.pgen.1006960
  228. 228. Budowle B, Murch R, Chakraborty R. Microbial forensics: The next forensic challenge. International Journal of Legal Medicine. 2005;119:317-330. DOI: 10.1007/s00414-005-0535-y
  229. 229. Johnson RN, Wilson-Wilde L, Linacre A. Current and future directions of DNA in wildlife forensic science. Forensic Science International. Genetics. 2014;10:1-11. DOI: 10.1016/j.fsigen.2013.12.007
  230. 230. Ogden R, Linacre A. Wildlife forensic science: A review of genetic geographic origin assignment. Forensic Science International. Genetics. 2015;18:152-159. DOI: 10.1016/j.fsigen.2015.02.008
  231. 231. Zenke P, Egyed B, Pádár Z, Kovács G. Increasing relevance of non-human genetics in Hungarian forensic practice. Forensic Science International: Genetics Supplement Series. 2015;5:e412-e413. DOI: 10.1016/j.fsigss.2015.09.100
  232. 232. Beltramo C, Riina MV, Colussi S, et al. Food Control. 2017;78:366-373. DOI: 10.1016/j.foodcont.2017.03.006
  233. 233. Staginnus C, Zörntlein S, de Meijer E. A PCR marker linked to a THCA synthase polymorphism is a reliable tool to discriminate potentially THC-rich plants of Cannabis sativa L. Journal of Forensic Sciences. 2014;59(4):919-926. DOI: 10.1111/1556-4029.12448
  234. 234. Dufresnes C, Jan C, Bienert F, et al. Broad-scale genetic diversity of cannabis for forensic applications. Scali M, editor. PLoS One. 2017;12(1):e0170522. DOI: 10.1371/journal.pone.0170522
  235. 235. Schmedes SE, Sajantila A, Budowle B. Expansion of microbial forensics. Journal of Clinical Microbiology. 2016;54:1964-1974. DOI: 10.1128/JCM.00046-16
  236. 236. Schmedes SE, Woerner AE, Budowle B. Forensic human identification using skin microbiomes. Applied and Environmental Microbiology. 2017;83(22, 12):e01672-17. DOI: 10.1128/AEM.01672-17
  237. 237. Ferri G, Corradini B, Ferrari F, et al. Forensic botany II, DNA barcode for land plants: Which markers after the international agreement? Forensic Science International. Genetics. 2015;15:131-136. DOI: 10.1016/j.fsigen.2014.10.005
  238. 238. Wilkinson MJ, Szabo C, Ford CS, et al. Replacing sanger with next generation sequencing to improve coverage and quality of reference DNA barcodes for plants. Scientific Reports. 2017;7:46040. DOI: 10.1038/srep46040
  239. 239. De Munnynck K, Van de Voorde W. Forensic approach of fatal dog attacks: A case report and literature review. International Journal of Legal Medicine. 2002;116:295-300. DOI: 10.1007/s00414-002-0332-9
  240. 240. Santoro V, Smaldone G, Lozito P, et al. A forensic approach to fatal dog attacks. A case study and review of the literature. Forensic Science International. 2011;206(1–3):e37-e42. DOI: 10.1016/j.forsciint.2010.07.026
  241. 241. Bury D, Langlois N, Byard RW. Animal-related fatalities-part I: Characteristic autopsy findings and variable causes of death associated with blunt and sharp trauma. Journal of Forensic Sciences. 2012;57:370-374. DOI: 10.1111/j.1556-4029.2011.01921.x
  242. 242. Byard RW. Domestic dogs (Canis lupus familiaris) and forensic practice. Forensic Science, Medicine, and Pathology. 2016;12:241. DOI: https://doi.org/10.1007/s12024-015-9672-x
  243. 243. Mitsouras K, Faulhaber EA. Saliva as an alternative source of high yield canine genomic DNA for genotyping studies. BMC Research Notes. 2009;2:219. DOI: 10.1186/1756-0500-2-219
  244. 244. Yokoyama JS, Erdman CA, Hamilton SP. Array-based whole-genome survey of dog saliva DNA yields high quality SNP data. PLoS One. 2010;5(5):e10809. DOI: 10.1371/journal.pone.0010809
  245. 245. Rincon G, Tengvall K, Belanger JM, et al. Comparison of buccal and blood-derived canine DNA, either native or whole genome amplified, for array-based genome-wide association studies. BMC Research Notes. 2011;4:226. DOI: 10.1186/1756-0500-4-226
  246. 246. Pádár Z, Egyed B, Kontadakis K, et al. Resolution of parentage in dogs by examination of microsatellites after death of putative sire: Case report. Acta Veterinaria Hungarica. 2001;49(3):269-273. DOI: 10.1556/004.49.2001.3.2
  247. 247. Pfeiffer I, Volkel I, Taubert H, Brenig B. Forensic DNA-typing of dog hair: DNA-extraction and PCR amplification. Forensic Science International. 2004;141:149-151. DOI: 10.1016/j.forsciint.2004.01.016
  248. 248. Bekaert B, Larmuseau MH, Vanhove MP, et al. Automated DNA extraction of single dog hairs without roots for mitochondrial DNA analysis. Forensic Science International. Genetics. 2012;6(2):277-281. DOI: 10.1016/j.fsigen.2011.04.009
  249. 249. Pilli E, Casamassima R, Vai S, et al. Pet fur or fake fur? A forensic approach. Investigative Genetics. 2014;5:7. DOI: 10.1186/2041-2223-5-7
  250. 250. Hellmann A, Rohleder U, Schmitter H, et al. STR typing of human telogen hairs: A new approach. International Journal of Legal Medicine. 2001;114:269-273
  251. 251. Kun T, Lyons LA, Sacks BN, et al. Developmental validation of Mini-DogFiler for degraded canine DNA. Forensic Science International. Genetics. 2013;7(1):151-158
  252. 252. Eichmann C, Parson W. Molecular characterization of the canine mitochondrial DNA control region for forensic applications. International Journal of Legal Medicine. 2007;121:411-416. DOI: 10.1007/s00414-006-0143-5
  253. 253. Berger C, Berger B, Parson W. Sequence analysis of the canine mitochondrial DNA control region from shed hair samples in criminal investigations. Methods in Molecular Biology. 2012;830:331-348. DOI: 10.1007/978-1-61779-461-2_23
  254. 254. Eichmann C, Berger B, Parson W. A proposed nomenclature for 15 canine-specific polymorphic STR loci for forensic purposes. International Journal of Legal Medicine. 2004;118:249-266. DOI: https://doi.org/10.1007/s00414-004-0452-5
  255. 255. Hellmann AP, Rohleder U, Eichmann C, et al. A proposal for standardization in forensic canine DNA typing: Allele nomenclature of six canine-specific STR loci. Journal of Forensic Sciences. 2006;51:274-281. DOI: 10.1111/j.1556-4029.2006.00049.x
  256. 256. Kanthaswamy S, Tom BK, Mattila AM, et al. Canine population data generated from a multiplex STR kit for use in forensic casework. Journal of Forensic Sciences. 2009;54(4):829-840. DOI: 10.1111/j.1556-4029.2009.01080.x
  257. 257. Berger B, Berger C, Hecht W, et al. Validation of two canine STR multiplex-assays following the ISFG recommendations for non-human DNA analysis. Forensic Science International. Genetics. 2014;8:90-100. DOI: 10.1016/j.fsigen.2013.07.002
  258. 258. Halverson J, Basten C. A PCR multiplex and database for forensic DNA identification of dogs. Journal of Forensic Sciences. 2005;50:352-363
  259. 259. Eichmann C, Berger B, Steinlechner M, et al. Estimating the probability of identity in a random dog population using 15 highly polymorphic canine STR markers. Forensic Science International. 2005;151:37-44. DOI: 10.1016/j.forsciint.2004.07.002
  260. 260. Van Asch B, Alves C, Gusmao L, et al. A new autosomal STR nineplex for canine identification and parentage testing. Electrophoresis. 2009;30(2):417-423. DOI: 10.1002/elps.200800307
  261. 261. Zenke P, Maróti-Agóts A, Padar ZS, et al. Molecular genetic data to evaluate inbreeding in dog populations. — Adatok a kutyaállományok beltenyésztettségének értékeléséhez. Hungarian Veterinary Journal — Magyar Allatorvosok Lapja. 2007;129(8):484-489
  262. 262. Zenke P, Maróti-Agóts A, Zs P, et al. Characterization of the WILMS-TF microsatellite marker in Hungarian dog populations. Acta Biologica Hungarica. 2009;60(3):329-332. DOI: 10.1556/ABiol.60.2009.3.10
  263. 263. Ganço L, Carvalho M, Serra A, et al. Genetic diversity analysis of 10 STR’s loci used for forensic identification in canine hair samples. Forensic Science International: Genetics Supplement Series. 2009;2:288-289
  264. 264. Zenke P, Egyed B, Zoldag L, et al. Population genetic study in Hungarian canine populations using forensically informative STR loci. Forensic Science International. Genetics. 2011;5(1):e31-e36
  265. 265. Parra D, Garcia D, Mendez S, et al. High mutation rates in canine tetranucleotide microsatellites: Too much risk for genetic compatibility purposes? Open Forensic Science Journal. 2010;3:9-13. DOI: 10.2174/1874402801003010009
  266. 266. Periera L, Van Asch B, Amorim A. Standardisation of nomenclature for dog mtDNA D-loop: A prerequisite for launching a Canis familiaris database. Forensic Science International. 2004;141:99-108. DOI: 10.1016/j.forsciint.2003.12.014
  267. 267. Verscheure S, Backeljau T, Desmyter S. Dog mitochondrial genome sequencing to enhance dog mtDNA discrimination power in forensic casework. Forensic Science International. Genetics. 2014;12:60-68. DOI: 10.1016/j.fsigen.2014.05.001
  268. 268. Duleba A, Skonieczna K, Bogdanowicz W, et al. Complete mitochondrial genome database and standardized classification system for Canis lupus familiaris. Forensic Science International. Genetics. 2015;19:123-129. DOI: 10.1016/j.fsigen.2015.06.014
  269. 269. Oldt R, Ng J, Kanthaswamy S. Chapter-19: The application of forensic animal DNA analysis in criminal and civil investigations. In: Amorim A, Budowle B, editors. Handbook of Forensic Genetics: Biodiversity and Heredity in Civil and Criminal Investigation. New Jersey: World Scientific; 2017. pp. 473-491. DOI: https://doi.org/10.1142/9781786340788_0019
  270. 270. Budowle B, Garofano P, Hellman A, et al. Recommendations for animal DNA forensic and identity testing. International Journal of Legal Medicine. 2005;119:295-302. DOI: 10.1007/s00414-005-0545-9
  271. 271. Linacre A, Gusmao L, Hech W, et al. ISFG: Recommendations regarding the use of nonhuman (animal) DNA in forensic genetic investigations. Forensic Science International. Genetics. 2011;5:501-505. DOI: 10.1016/j.fsigen.2010.10.017
  272. 272. ENFSI APSTWG. Best Practice Manual for the Application of Molecular Methods for the Forensic Examination of Non-Human Biological Traces. [Internet]. 2015. Available from: http://enfsi.eu/wp-content/uploads/2016/09/8._application_of_molecular_methods_for_the_forensic__examination_of_non-human_biological_traces_0.pdf [Accessed: 2017.10.10]
  273. 273. Bond JW, Weart JR. The effectiveness of trace DNA profiling—A comparison between a U.S. and a U.K. law enforcement jurisdiction. Journal of Forensic Sciences. 2017;62(3):753-760. DOI: 10.1111/1556-4029.13317
  274. 274. ISFG. International Society for Forensic Genetics. Recommendations of the DNA Commission [Internet]. Available from: https://www.isfg.org/Publications/DNA+Commission [Accessed: 2017.10.10]
  275. 275. Padar Z, Nogel M, Kovacs G. Accreditation of forensic laboratories as a part of the ‘European Forensic Science 2020’ concept in countries of the Visegrad Group. Forensic Science International: Genetics Supplement Series. 2015;5:e412-e413. DOI: 10.1016/j.fsigss.2015.09.163
  276. 276. International Organization for Standardization. ISO/IEC 17025:2005. General requirements for the competence of testing and calibration laboratories. [Internet]. Available from: https://www.iso.org/standard/39883.html [Accessed: 2017.10.10]
  277. 277. Alvarez-Cubero MJ, Saiz M, Martínez-García B, et al. Next generation sequencing: An application in forensic sciences? Annals of Human Biology. 2017;44(7):581-592. DOI: 10.1080/03014460.2017.1375155
  278. 278. Budowle B, Schmedes SE, Wendt FR. Increasing the reach of forensic genetics with massively parallel sequencing. Forensic Science, Medicine, and Pathology. 2017;13(3): 342-349. DOI: 10.1007/s12024-017-9882-5

Written By

Zsolt Pádár, Petra Zenke and Zsolt Kozma

Submitted: 29 November 2017 Reviewed: 30 November 2017 Published: 14 February 2018