Article

Machine learning ascertains candidate genes for rare musculoskeletal disorders in 100,000 Genomes Project

2025-04-27

Abstract excerpt

The rich and unique whole genome sequencing (WGS) data in the UK’s 100,000 Genomes Project (100kGP) remain under-explored with low diagnostic yield for rare diseases (RDs), including rare musculoskeletal (MSK) disorders. Machine learning (ML) algorithms, a powerful method for discovering insights into novel genes, suffer from the long-standing curse of dimensionality, especially for MSK studies with small patient...

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Literature Corpus work: 6a602991-0467-516a-8bb9-f229826c5fdd
DOI: 10.22541/au.174578402.20874742/v1

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