Genic intolerance to functional variation and the interpretation of personal genomes.

A central challenge in interpreting personal genomes is determining which mutations most likely influence disease. Although progress has been made in scoring the functional impact of individual mutations, the characteristics of the genes in which those mutations are found remain largely unexplored....

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Bibliographic Details
Main Authors: Slavé Petrovski, Quanli Wang, Erin L Heinzen, Andrew S Allen, David B Goldstein
Format: Article
Language:English
Published: Public Library of Science (PLoS) 2013-01-01
Series:PLoS Genetics
Online Access:http://europepmc.org/articles/PMC3749936?pdf=render