Non-synonymous and synonymous coding SNPs show similar likelihood and effect size of human disease association.

Many DNA variants have been identified on more than 300 diseases and traits using Genome-Wide Association Studies (GWASs). Some have been validated using deep sequencing, but many fewer have been validated functionally, primarily focused on non-synonymous coding SNPs (nsSNPs). It is an open question...

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Bibliographic Details
Main Authors: Rong Chen, Eugene V Davydov, Marina Sirota, Atul J Butte
Format: Article
Language:English
Published: Public Library of Science (PLoS) 2010-10-01
Series:PLoS ONE
Online Access:http://europepmc.org/articles/PMC2962641?pdf=render

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