Article
Discovery of rare variants for complex phenotypes.
Human genetics - 1 Jun 2016
Kosmicki Jack A, Churchhouse Claire L, Rivas Manuel A, Neale Benjamin M
Abstract excerpt
With the rise of sequencing technologies, it is now feasible to assess the role rare variants play in the genetic contribution to complex trait variation. While some of the earlier targeted sequencing studies successfully identified rare variants of large effect, unbiased gene discovery using exome sequencing has experienced limited success for complex traits. Nevertheless, rare variant association studies have...
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