[PDF][PDF] Non-Synonymous and Synonymous Coding SNPs Show Similar Likelihood and Effect Size of Human

R Chen, EV Davydov, M Sirota, AJ Butte - 2010 - Citeseer
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 whether synonymous coding
SNPs (sSNPs) and other non-coding SNPs can lead to as high odds ratios as nsSNPs. We
conducted a broad survey across 21,429 disease-SNP associations curated from 2,113 …

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

R Chen, EV Davydov, M Sirota, AJ Butte - PloS one, 2010 - journals.plos.org
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 whether synonymous coding
SNPs (sSNPs) and other non-coding SNPs can lead to as high odds ratios as nsSNPs. We
conducted a broad survey across 21,429 disease-SNP associations curated from 2,113 …
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