Open access peer-reviewed Edited Volume

Single Nucleotide Polymorphism - Current Insights in Detection and Clinical Applications

Imran Shahid

Umm al-Qura University


Congenital abnormalities Cystic Fibrosis Karyotyping Genome Sequencing Prognostic Biomarkers Candidate Gene CRISPR Mouse Models CRISPR Barcoding Antibiotic Resistance Cancer Drug Resistance Molecular Genetic Testing Imaging Genetic

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About the book

Genetic heterogeneity at the degree of allelic, locus and phenotypic levels is highly correlated to many human congenital diseases including cystic fibrosis, Alzheimer's disease, autism spectrum disorders, inherited proneness to breast cancer and non- syndromic hearing loss. Similarly, dynamic reassortments and genome variants of some infectious human viruses' including human T-cell leukemia, Influenza A, HIV-1, HCV, and HBV have widened the infection transmission, progression into associated comorbidities and evolution of certain harder to treat viral strains. It is also evident that genetically distinct cell populations within a tumor produce acquired cancer traits (subclonal architecture) that vary dynamically throughout cancer progression. Intratumor genetic heterogeneity (ITH) is the main obstacle to most effective cancer treatment as well as in the emergence of drug resistance. This book highlights up-to-date information about the pivotal role of nucleotide sequence mutations, copy-number alterations, chromosomal translocations, genomic instabilities and epigenetic modifiers in genetic heterogeneity. This book will focus on the clinical implications of genetic heterogeneity in human diseases as well as the involvement of novel molecular techniques for its identification and treatment, in particular, focusing on whole-exome sequencing and CRISPR/CAS9 technologies. This book will also lend new insights to disclose new drivers of genetic heterogeneity to be useful as either predictive/diagnostic biomarkers or therapeutic target to treat congenital abnormalities, tumor development and to improve cancer treatment.“Snips” or most frequently known single nucleotide polymorphisms are the most common type of genetic variation in human genome. These variations occur normally as a difference in a single DNA building block (i.e., nucleotide), and represent the most abundant form of genetic variations in a person’s genome. Such variations act as biological markers to find a disease as well as to enumerate direct role of gene’s function in disease progression. In recent years researchers have found important roles of SNPs in pharmacogenetics, the risk of developing diseases, inheritance of congenital defects and in susceptibility to environmental factors such as toxins. Many studies have pointed out their pivotal role in heart disease, diabetes and cancer. Copy number variations (CNVs) which also contributes to phenotypic variance by duplications and deletions may also influence gene expression and consequently vulnerability to human diseases. This book pragmatically overviews a correlation of SNPs and CNV to human phenotypic variance as well as to be the genetic basis of human diseases and their dissemination. The book will also cover the recent advances and new paradigms in the detection methods of SNPs and CNVs in neurodevelopmental and CNS diseases, heart diseases, congenital defects and certain autoimmune human disorders. The book will also tend to explore the potential role of SNPs in industry to formulate gene therapy, personalized medicine and immune therapies to treat certain genetic disorders.

Publishing process

Book initiated and editor appointed

Date completed: October 18th 2019

Applications to edit the book are assessed and a suitable editor is selected, at which point the process begins.

Chapter proposals submitted and reviewed

Deadline Extended: Open for Submissions

Potential authors submit chapter proposals ready for review by the academic editor and our publishing review team.

Approved chapters written in full and submitted

Deadline for full chapters: January 7th 2020

Once approved by the academic editor and publishing review team, chapters are written and submitted according to pre-agreed parameters

Full chapters peer reviewed

Review results due: March 27th 2020

Full chapter manuscripts are screened for plagiarism and undergo a Main Editor Peer Review. Results are sent to authors within 30 days of submission, with suggestions for rounds of revisions.

Book compiled, published and promoted

Expected publication date: May 26th 2020

All chapters are copy-checked and typesetted before being published. IntechOpen regularly submits its books to major databases for evaluation and coverage, including the Clarivate Analytics Book Citation Index in the Web of ScienceTM Core Collection. Other discipline-specific databases are also targeted, such as Web of Science's BIOSIS Previews.

About the editor

Imran Shahid

Umm al-Qura University

Dr. Imran Shahid is an assistant Professor at Umm Al-Qura University, Makkah, Saudi Arabia where his research is focused on the broad areas of host-virus networks in HCV disease progression as well as host-virus genes expression during oxidative stress, hepatic steatosis, fibrosis, and hepatocellular carcinoma. He is also enthusiastically involved in the studies of tyrosine kinase inhibitors for the treatment of breast and colon cancer, in the Saudi population. He was trained from applied and functional genomics laboratory, National Centre of Excellence in Molecular Biology (NCEMB), University of Punjab; Lahore, Pakistan where he worked on anti-mRNA based treatment strategies against hepatitis C virus 1a genotype in Pakistani population. Dr. Imran has published many research articles in peer-reviewed international journals and a member of the editorial board of several international journals.

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