Testing Rare-Variant Association without Calling Genotypes Allows for Systematic Differences in Sequencing between Cases and Controls.

Next-generation sequencing of DNA provides an unprecedented opportunity to discover rare genetic variants associated with complex diseases and traits. However, the common practice of first calling underlying genotypes and then treating the called values as known is prone to false positive findings,...

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Bibliographic Details
Main Authors: Yi-Juan Hu, Peizhou Liao, H Richard Johnston, Andrew S Allen, Glen A Satten
Format: Article
Language:English
Published: Public Library of Science (PLoS) 2016-05-01
Series:PLoS Genetics
Online Access:http://europepmc.org/articles/PMC4859496?pdf=render