Article

Automated Identification of Germline <i>de novo</i> Mutations in Family Trios: A Consensus-Based Informatic Approach

2024-03-13

Abstract excerpt

<h4>ABSTRACT</h4> Accurate identification of germline de novo variants (DNVs) remains a challenging problem despite rapid advances in sequencing technologies as well as methods for the analysis of the data they generate, with putative solutions often involving ad hoc filters and visual inspection of identified variants. Here, we present a purely informatic method for the identification of DNVs by analyzing shor...

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Literature Corpus work: a7d21866-9a45-577a-801c-1091ce9d0afb
DOI: 10.1101/2024.03.08.584100

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