Article
Joint variant and de novo mutation identification on pedigrees from high-throughput sequencing data.
Journal of computational biology : a journal of computational molecular cell biology - 1 Jun 2014
Cleary John G, Braithwaite Ross, Gaastra Kurt, Hilbush Brian S, Inglis Stuart, Irvine Sean A, Jackson Alan, Littin Richard, Nohzadeh-Malakshah Sahar, Rathod Mehul, Ware David, Trigg Len, De La Vega Francisco M
Abstract excerpt
The analysis of whole-genome or exome sequencing data from trios and pedigrees has been successfully applied to the identification of disease-causing mutations. However, most methods used to identify and genotype genetic variants from next-generation sequencing data ignore the relationships between samples, resulting in significant Mendelian errors, false positives and negatives. Here we present a Bayesian...
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