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Comparison and integration of deleteriousness prediction methods for nonsynonymous SNVs in whole exome sequencing studies

Accurate deleteriousness prediction for nonsynonymous variants is crucial for distinguishing pathogenic mutations from background polymorphisms in whole exome sequencing (WES) studies. Although many deleteriousness prediction methods have been developed, their prediction results are sometimes incons...

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Dettagli Bibliografici
Pubblicato in:Hum Mol Genet
Autori principali: Dong, Chengliang, Wei, Peng, Jian, Xueqiu, Gibbs, Richard, Boerwinkle, Eric, Wang, Kai, Liu, Xiaoming
Natura: Artigo
Lingua:Inglês
Pubblicazione: Oxford University Press 2015
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Accesso online:https://ncbi.nlm.nih.gov/pmc/articles/PMC4375422/
https://ncbi.nlm.nih.gov/pubmed/25552646
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1093/hmg/ddu733
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