Predicting Mendelian Disease-Causing Non-Synonymous Single Nucleotide Variants in Exome Sequencing Studies

Exome sequencing is becoming a standard tool for mapping Mendelian disease-causing (or pathogenic) non-synonymous single nucleotide variants (nsSNVs). Minor allele frequency (MAF) filtering approach and functional prediction methods are commonly used to identify candidate pathogenic mutations in the...

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Autores principales: Li, Miao-Xin, Kwan, Johnny S. H., Bao, Su-Ying, Yang, Wanling, Ho, Shu-Leong, Song, Yong-Qiang, Sham, Pak C.
Formato: Artigo
Lenguaje:Inglês
Publicado: Public Library of Science 2013
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Research Article
Acceso en línea:https://ncbi.nlm.nih.gov/pmc/articles/PMC3547823/
https://ncbi.nlm.nih.gov/pubmed/23341771
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1371/journal.pgen.1003143
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