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Article

Improved discovery of de novo mutations using TrioDNM and VRFS.

GigaScience - 21 Jan 2026

Danecek Petr, Gardner Eugene J, Kaplanis Joanna, Hurles Matthew E, Lindsay Sarah J

Abstract excerpt

BACKGROUND: Identifying de novo mutations (DNM) is an important component of both genetic research studies and clinical diagnostic workflows, but is complicated by distinguishing true mutations from sequencing errors. Likelihood-based error models are more accurate than inferring mutations from genotypes alone, but the resulting callsets still have high false positive rates. RESULTS: We identify that the main...

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Identifiers

PMID: 42264155
DOI: 10.1093/gigascience/giag068
PMCID: PMC13289757

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 5 Sept 2026.

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