Integrating multiple genomic data to predict disease-causing nonsynonymous single nucleotide variants in exome sequencing studies.

Exome sequencing has been widely used in detecting pathogenic nonsynonymous single nucleotide variants (SNVs) for human inherited diseases. However, traditional statistical genetics methods are ineffective in analyzing exome sequencing data, due to such facts as the large number of sequenced variant...

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Bibliographic Details
Main Authors: Jiaxin Wu, Yanda Li, Rui Jiang
Format: Article
Language:English
Published: Public Library of Science (PLoS) 2014-03-01
Series:PLoS Genetics
Online Access:http://europepmc.org/articles/PMC3961190?pdf=render