Article

HAPDeNovo: a haplotype-based approach for filtering and phasing <i>de novo</i> mutations in linked read sequencing data

2017-11-16

Abstract excerpt

<h4>Background</h4> De novo mutations (DNMs) are associated with neurodevelopmental and congenital diseases, and their detection can contribute to understanding disease pathogenicity. However, accurate detection is challenging because of their small number relative to the genome-wide false positives in next generation sequencing (NGS) data. Software such as DeNovoGear and TrioDeNovo have been developed to detect...

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Literature Corpus work: aad2a3a7-2806-5488-9a42-e951c1f19a4e
DOI: 10.1101/220830

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