Collapsing
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UK Biobank — Rare variant gene-based collapsing analysis
PUBMED_LINK
STAGE_PERIOD
2021
DESCRIPTION
Gene-based collapsing analysis in 281k participants identified 1,703 gene-phenotype associations. Rare variant contribution to common disease demonstrated.
URL
TITLE
Rare variant contribution to human disease in 281,104 UK Biobank exomes