Article

Joint Variant and <i>De Novo</i> Mutation Identification on Pedigrees from High-Throughput Sequencing Data

2014-01-22

Abstract excerpt

The analysis of whole-genome or exome sequencing data from trios and pedigrees has being 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 networ...

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Literature Corpus work: de6405fc-24a3-5061-9a09-1e8c044122d8
DOI: 10.1101/001958

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