Statistical Guidance for Experimental Design and Data Analysis of Mutation Detection in Rare Monogenic Mendelian Diseases by Exome Sequencing
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Title
Statistical Guidance for Experimental Design and Data Analysis of Mutation Detection in Rare Monogenic Mendelian Diseases by Exome Sequencing
Authors
Keywords
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Journal
PLoS One
Volume 7, Issue 2, Pages e31358
Publisher
Public Library of Science (PLoS)
Online
2012-02-11
DOI
10.1371/journal.pone.0031358
References
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Related references
Note: Only part of the references are listed.- Computational and statistical approaches to analyzing variants identified by exome sequencing
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- Whole Exome Sequencing and Homozygosity Mapping Identify Mutation in the Cell Polarity Protein GPSM2 as the Cause of Nonsyndromic Hearing Loss DFNB82
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- (2009) Bingshan Li et al. PLoS Genetics
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