Article

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

2023-03-27

Abstract excerpt

The 100,000 Genomes Project (100KGP) diagnosed a quarter of recruited affected participants, but 26% of diagnoses were in genes not on the chosen gene panel(s); with many being de novo variants of high impact. However, assessing biallelic variants without a gene panel is challenging, due to the number of variants requiring scrutiny. We sought to identify potential missed biallelic diagnoses independent of the gene...

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Literature Corpus work: 5f2d6ec0-7d51-55b4-bfbd-0df0babd5cf3
DOI: 10.1101/2023.03.21.23287545

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