Testing for an unusual distribution of rare variants.

Technological advances make it possible to use high-throughput sequencing as a primary discovery tool of medical genetics, specifically for assaying rare variation. Still this approach faces the analytic challenge that the influence of very rare variants can only be evaluated effectively as a group....

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Bibliographic Details
Main Authors: Benjamin M Neale, Manuel A Rivas, Benjamin F Voight, David Altshuler, Bernie Devlin, Marju Orho-Melander, Sekar Kathiresan, Shaun M Purcell, Kathryn Roeder, Mark J Daly
Format: Article
Language:English
Published: Public Library of Science (PLoS) 2011-03-01
Series:PLoS Genetics
Online Access:http://europepmc.org/articles/PMC3048375?pdf=render