Article
Sequencing studies in human genetics: design and interpretation.
Nature reviews. Genetics - 1 Jul 2013
Goldstein David B, Allen Andrew, Keebler Jonathan, Margulies Elliott H, Petrou Steven, Petrovski Slavé, Sunyaev Shamil
Abstract excerpt
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...
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