Predicting Mendelian Disease-Causing Non-Synonymous Single Nucleotide Variants in Exome Sequencing Studies-Reference-Cited by-同舟云学术

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

Published:2013-01-17 Issue:1 Volume:9 Page:e1003143
ISSN:1553-7404
Container-title:PLoS Genetics
language:en
Short-container-title:PLoS Genet

Author:

Li Miao-Xin,Kwan Johnny S. H.,Bao Su-Ying,Yang Wanling,Ho Shu-Leong,Song Yong-Qiang,Sham Pak C.

Publisher

Public Library of Science (PLoS)

Subject

Cancer Research,Genetics (clinical),Genetics,Molecular Biology,Ecology, Evolution, Behavior and Systematics

Reference43 articles.

1. Targeted capture and massively parallel sequencing of 12 human exomes;SB Ng;Nature,2009

2. The Human Gene Mutation Database: 2008 update;PD Stenson;Genome Med,2009

3. A comprehensive framework for prioritizing variants in exome sequencing studies of Mendelian diseases;MX Li;Nucleic Acids Res,2012

4. SVA: software for annotating and visualizing sequenced human genomes;D Ge;Bioinformatics,2011

5. ANNOVAR: functional annotation of genetic variants from high-throughput sequencing data;K Wang;Nucleic Acids Res,2010

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