Article

Estimating Error Models for Whole Genome Sequencing Using Mixtures of Dirichlet-Multinomial Distributions

2015-11-14

Abstract excerpt

<h4>Motivation</h4> Accurate identification of genotypes is critical in identifying de novo mutations, linking mutations with disease, and determining mutation rates. Because de novo mutations are rare, even low levels of genotyping error can cause a large fraction of false positive de novo mutations. Biological and technical processes that adversely affect genotyping include copy-number-variation, paralogous seq...

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Literature Corpus work: c1b8fd6c-273c-566c-9fda-81dd105d2a98
DOI: 10.1101/031724

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