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...
Main Authors: | , , , |
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Format: | Article |
Language: | English |
Published: |
Public Library of Science (PLoS)
2010-10-01
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Series: | PLoS ONE |
Online Access: | http://europepmc.org/articles/PMC2962641?pdf=render |