Article

Federated Learning for the pathogenicity annotation of genetic variants in multi-site clinical settings

2025-04-04

Abstract excerpt

Rare diseases collectively affect 5% of the population. However, fewer than 50% of rare disease patients receive a molecular diagnosis after whole genome sequencing. Supervised machine Learning is a valuable approach for the pathogenicity scoring of human genetic variants. However, existing methods are often trained on curated but limited central repositories, resulting in poor accuracy when tested on external coh...

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Literature Corpus work: 6d22cc9c-2611-562a-85c7-4767b16ed838
DOI: 10.1101/2025.04.03.25325184

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