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Báo cáo y học: " Next-generation human genetics"

Tuyển tập các báo cáo nghiên cứu về y học được đăng trên tạp chí y học Wertheim cung cấp cho các bạn kiến thức về ngành y đề tài: Next-generation human genetics. | Shendure Genome Biology 2011 12 408 http genomebiology.eom 2011 12 9 408 w Genome Biology EDITORIAL L_ Next-generation human geneties Jay Shendure Abstract The field of human genetics is being reshaped by exome and genome sequencing. Several lessons are evident from observing the rapid development of this area over the past 2 years and these may be instructive with respect to what we should expect from nextgeneration human genetics in the next few years. In 2005 two publications introduced methods for massively parallel DNA sequencing 1 2 marking the beginning of a dizzying free-fall in sequencing costs that continues today with no obvious end in sight. To enable the flexible application of these next-generation technologies in the context of human genetics our group and others have developed new methods for the parallel and programmable capture of complex subsets of the human genome at a cost and scale that is commensurate with the power of new sequencing technologies 3 . These methods facilitate the next-generation sequencing of specific subsets of the genome in many individuals for the same cost as whole-genome sequencing of a single individual. An effective compromise between the competing goals of genome-wide comprehensiveness and cost-control was realized in the concept of exome sequencing that is the capture and sequencing of the approximately 1 of the human genome that is protein coding 4 5 . The contents of this special issue of Genome Biology as well as over 200 other publications since 2009 whose abstracts contain the term exome confirm the success of exome sequencing as a new and effective technological paradigm within human genetics. Exome sequencing has proven useful for identifying the molecular defects underlying single gene disorders as well as some genetically heterogeneous disorders for identifying genes that are recurrently mutated in various cancers and for new insights with respect to human evolution and population Correspondence .