Scope
Human genomics is a newly emerged scientific field that was particularly accelerated after the invention of next-generation sequencing technology (NGS). NGS allowed the completion of the human genome project in 2003. This book series will explore the remarkable achievements during 20 years of studying human pangenome, genotype–phenotype-environment relationships, and the use of genomic information for diagnosing diseases and the development of new therapies.
This topic's scope includes: Structural Genomics (genome mapping, single nucleotide variations, copy number variations, non-coding genome variations); Functional Genomics (genetic variations and gene expression); Genomics as part of the multi-omics (e.g., epigenomics, transcriptomics); Population Genomics (genome-wide association studies, comparative genomics); Clinical Genomics (monogenic diseases, complexed trait diseases, polygenic diseases); Single-cell genomics, molecular networks; Pharmacogenomics (drug-gene interactions, targeted therapies); Forensic Genomics (microsatellites, STR, VNTR); Metagenomics (shotgun metagenomics, microbiomics); Genomics in genetic engineering and gene therapy; Genomics data analysis, bioinformatics (data mining, analytics, modeling); Genomic biodata storage and sharing, bio-registries, repositories, bio-hubs; Genomic data interpretation, genomic variant classification, nomenclature; Next-generation sequencing technologies (NGS types and applications).
keywords
Genome Mapping Gene Expression Epigenomics Comparative Genomics Monogenic Diseases Single-cell Genomics Drug-gene Interactions Shotgun Metagenomics Genomics Data Analysis NGS