The field of human genetics rapidly accelerated with the mapping of the human genome in 2001 and the subsequent completion of the euchromatic sequence in 2004. With ~3 billion base pairs and 20-25 thousand protein-encoding genes that were published, these studies established a solid foundation for biomedical research. Next-generation sequencing (NGS) techniques and their advancements have reshaped and pushed the boundaries of the way human genetics research is conducted. NGS has also revolutionized risk assessment for diseases and has paved the way for the development of personalized treatment options.
NGS provides researchers the ability to study the sequence of an entire genome (whole genome sequencing), target just the coding regions (whole exome sequencing) or to even target specific regions of the genome (targeted sequencing). Genetic variations and risk factors can be assessed with unparalleled precision using specialized NGS techniques such as clonal amplification of single DNA molecules.
Roche Sequencing Solutions offers a broad portfolio of target enrichment and library preparation products for NGS applications.
Wetterstrand KA. DNA Sequencing Costs: Data from the NHGRI Genome Sequencing Program (GSP) Available at: www.genome.gov/sequencingcostsdata. Accessed February 11, 2020.
Koboldt DC, Steinberg KM, Larson DE, Wilson RK, Mardis ER. The next-generation sequencing revolution and its impact on genomics. Cell. 2013 Sep 26;155(1):27-38. doi: 10.1016/j.cell.2013.09.006.
Richards S, Aziz N, Bale S, Bick D, Das S, Gastier-Foster J, et al. Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology. Genet Med. 2015;17: 405–424. doi:10.1038/gim.2015.30
Song W, Gardner SA, Hovhannisyan H, Natalizio A, Weymouth KS, Chen W, et al. Exploring the landscape of pathogenic genetic variation in the ExAC population database: insights of relevance to variant classification. Genet Med. 2016;18: 850–854. doi:10.1038/gim.2015.180