Equity in genome sequencing for rare disease diagnosis: a cross-sectional analysis of data from the UK 100,000 Genomes Project
Sam Tallman, Loukas Moutsianas, Thuy Nguyen, Yoonsu Cho, Maxine E. Mackintosh, Dalia Kasperavičiūtė, Matthew Arthur Brown, Jamie M. Ellingford, Karoline B. Kuchenbaecker, Matt J. Silver
This study examines ancestry-related differences in variant prioritisation and diagnostic outcomes in the UK 100,000 Genomes Project, finding disparities in positive predictive value and variant of uncertain significance frequencies across groups.
eBioMedicine · Sep 1, 2026Peer-reviewedGenetic & Genomic Medicine