Genetic & Genomic MedicineeBioMedicinePeer-reviewed
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…·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.
DOI 10.1016/j.ebiom.2026.106452