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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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Hlavní autoři: Chen, Rong, Davydov, Eugene V., Sirota, Marina, Butte, Atul J.
Médium: Artigo
Jazyk:Inglês
Vydáno: Public Library of Science 2010
Témata:
On-line přístup:https://ncbi.nlm.nih.gov/pmc/articles/PMC2962641/
https://ncbi.nlm.nih.gov/pubmed/21042586
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1371/journal.pone.0013574
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