Statistical Guidance for Experimental Design and Data Analysis of Mutation Detection in Rare Monogenic Mendelian Diseases by Exome Sequencing
Author:
Publisher
Public Library of Science (PLoS)
Subject
Multidisciplinary
Reference29 articles.
1. Targeted capture and massively parallel sequencing of 12 human exomes.;SB Ng;Nature,2009
2. Exome sequencing identifies the cause of a mendelian disorder.;SB Ng;Nat Genet,2010
3. Exome sequencing identifies MLL2 mutations as a cause of Kabuki syndrome.;SB Ng;Nat Genet,2010
4. Whole-exome sequencing identifies recessive WDR62 mutations in severe brain malformations.;K Bilguvar;Nature,2010
5. Identity-by-descent filtering of exome sequence data identifies PIGV mutations in hyperphosphatasia mental retardation syndrome.;PM Krawitz;Nat Genet,2010
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