Article

Real-world evaluation of deep learning algorithms to classify functional pathogenic germline variants

2024-04-07

Abstract excerpt

Deep learning models for variant pathogenicity prediction can recapitulate expert-curated annotations, but their performance remains unexplored on actual disease phenotypes in a real-world setting. Here, we apply three state-of-the-art pathogenicity prediction models to classify hereditary breast cancer gene variants in the UK Biobank. Predicted pathogenic variants in BRCA1, BRCA2 and PALB2 , but not ATM and CHEK2...

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Literature Corpus work: a73ea64b-c74c-5e4a-a106-1c5622126e01
DOI: 10.1101/2024.04.05.24305402

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