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Article

Equity in genome sequencing for rare disease diagnosis: a cross-sectional analysis of data from the UK 100,000 Genomes Project.

EBioMedicine - 1 Sept 2026

Tallman Sam, Moutsianas Loukas, Nguyen Thuy, Cho Yoonsu, Mackintosh Maxine, Kasperaviciute Dalia, Brown Matthew A, Ellingford Jamie M, Kuchenbaecker Karoline, Silver Matt J

Abstract excerpt

BACKGROUND: Genome sequencing has improved rare disease diagnosis and is now part of routine clinical care in the National Health Service in England. Automated prioritisation pipelines narrow millions of variants per patient to a small subset for clinical review, a process that relies on allele frequency resources that do not fully represent human genetic diversity. We assessed ancestry-related differences in...

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Topics

Humans
Rare Diseases
Gene Frequency
United Kingdom
Cross-Sectional Studies
Genome, Human

Methodology Data sources Editorial policy Privacy Delete account & data About Contact Helena Bioinformatics

Whole Genome Sequencing

Genetic Variation

Source

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Identifiers

PMID: 42648159
DOI: 10.1016/j.ebiom.2026.106452
PMCID: PMC13543812

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