novoCaller: a Bayesian network approach for de novo variant calling from pedigree and population sequence data
Abstract
De novo mutations (i.e. newly occurring mutations) are a pre-dominant cause of sporadic dominant monogenic diseases and play a significant role in the genetics of complex disorders. De novo mutation studies also inform population genetics models and shed light on the biology of DNA replication and repair. Despite the broad interest, there is room for improvement with regard to the accuracy of de novo mutation calling.We designed novoCaller, a...
Paper Details
Title
novoCaller: a Bayesian network approach for de novo variant calling from pedigree and population sequence data
Published Date
Aug 30, 2018
Journal
Volume
35
Issue
7
Pages
1174 - 1180
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