Improved discovery of de novo mutations using TrioDNM and VRFS

Petr Danecek

doi:10.1093/gigascience/giag068

Improved discovery of de novo mutations using TrioDNM and VRFS

2026-06-09

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Petr Danecek *

E

Eugene J Gardner

J

Joanna Kaplanis

M

Matthew E Hurles

S

Sarah J Lindsay

DOI：10.1093/gigascience/giag068

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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.

Improved discovery of de novo mutations using TrioDNM and VRFS

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