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A Genomics England haplotype reference panel and imputation of UK Biobank.

Nature genetics - 1 Sept 2024

Shi Sinan, Rubinacci Simone, Hu Sile, Moutsianas Loukas, Stuckey Alex, Need Anna C, Palamara Pier Francesco, Caulfield Mark, Marchini Jonathan, Myers Simon

Abstract excerpt

We built a reference panel with 342 million autosomal variants using 78,195 individuals from the Genomics England (GEL) dataset, achieving a phasing switch error rate of 0.18% for European samples and imputation quality of r2 = 0.75 for variants with minor allele frequencies as low as 2 × 10-4 in white British samples. The GEL-imputed UK Biobank genome-wide association analysis identified 70% of associations...

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Identifiers

PMID: 39134668
DOI: 10.1038/s41588-024-01868-7
PMCID: PMC11387190

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