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Article

A gene pathogenicity tool "GenePy" identifies missed biallelic diagnoses in the 100,000 Genomes Project.

Genetics in medicine : official journal of the American College of Medical Genetics - 1 Apr 2024

Seaby Eleanor G, Leggatt Gary, Cheng Guo, Thomas N Simon, Ashton James J, Stafford Imogen, Baralle Diana, Rehm Heidi L, O'Donnell-Luria Anne, Ennis Sarah

Abstract excerpt

PURPOSE: The 100,000 Genomes Project diagnosed a quarter of affected participants, but 26% of diagnoses were not on the applied gene panel(s); with many being de novo variants. Assessing biallelic variants without a gene panel is more challenging. METHODS: We sought to identify missed biallelic diagnoses using GenePy, which incorporates allele frequency, zygosity, and a user-defined deleterious metric, generating...

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PMID: 38245859
DOI: 10.1016/j.gim.2024.101073

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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