Genomics refers to the study of function, structure, and interactions of the genome, and it is one of the most rapidly developing scientific areas. An organism’s complete set of DNA, including both protein-coding and noncoding genes, constitutes the genome. The completion of the Human Genome Project in 2003 laid a foundation for in-depth study of genomics and led to the beginning of the “genomics era.” Next-generation sequencing including exome and DNA sequencing has provided a plethora of means by which we can dissect the genome at structural and functional levels. During the last decade, developments and advances in the field of genomics have led to a better understanding of human genome architecture, discovery of disease-associated genetic variants, and development of newer diagnostic methods in the field of clinical genomics. The Encyclopedia of DNA Elements (ENCODE) Project in 2010 established yet another landmark for the genomics era. The ENCODE Project characterized and annotated the functional elements hidden within the human genome’s 3.2 billion bases with the aid of next-generation sequencing technologies, chromosomal conformation capture techniques, and epigenomic methods. It resolved the widespread myth about junk DNA being nonfunctional and provided evidence that the DNA between protein-coding genes consists of myriad elements (such as enhancers, silencers, and insulators) that regulate gene expression by switching transcription on or off, or by regulating messenger RNA turnover and consequently affecting translational efficiency.
This chapter provides readers with an up-to-date and coherent view of human genome architecture and also provides information about different milestones in the genomics era and new technological advances in the field.
KeywordsHuman Genome Project ENCODE Sequencing Comparative genomics Functional genomics Clinical genomics
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