Sequencing studies in human genetics: design and interpretation.
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ABSTRACT:
SUBMITTER: Goldstein DB
PROVIDER: S-EPMC4117319 | biostudies-literature | 2013 Jul
REPOSITORIES: biostudies-literature
Publications
Sequencing studies in human genetics: design and interpretation.
Goldstein David B DB Allen Andrew A Keebler Jonathan J Margulies Elliott H EH Petrou Steven S Petrovski Slavé S Sunyaev Shamil S
Nature reviews. Genetics 20130611 7
Next-generation sequencing is becoming the primary discovery tool in human genetics. There have been many clear successes in identifying genes that are responsible for Mendelian diseases, and sequencing approaches are now poised to identify the mutations that cause undiagnosed childhood genetic diseases and those that predispose individuals to more common complex diseases. There are, however, growing concerns that the complexity and magnitude of complete sequence data could lead to an explosion ...[more]
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