Article

Rare disease gene association discovery from burden analysis of the 100,000 Genomes Project data

2023-12-21

Abstract excerpt

To discover rare disease-gene associations, we developed a gene burden analytical framework and applied it to rare, protein-coding variants from whole genome sequencing of 35,008 cases with rare diseases and their family members recruited to the 100,000 Genomes Project (100KGP). Following in silico triaging of the results, 88 novel associations were identified including 38 with existing experimental evidence. We...

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Literature Corpus work: 3e029b26-c981-5a83-bc19-c4cef17fa81e
DOI: 10.1101/2023.12.20.23300294

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