Article

Missing genetic diversity impacts variant prioritisation for rare disorders

2024-08-14

Abstract excerpt

Whole genome sequencing identifies millions of genetic variants per individual. When applied to rare disease diagnosis, potentially pathogenic variants are prioritised for clinical interpretation, a process that may be influenced by an individual’s genetic ancestry. We analysed millions of rare protein-altering variants prioritised in 29,425 participants with rare disease from the UK 100,000 Genomes Project. We ob...

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Literature Corpus work: 4088b124-bab9-5290-b88e-080dff0ff05a
DOI: 10.1101/2024.08.12.24311664

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