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 found by direct exome sequencing (P < 2.18 × 10-11), while extending testing of rare variants to the entire genome. Coding variants dominated the rare-variant genome-wide association results, implying less disruptive effects of rare non-coding variants.
Journal article
2024-09-01T00:00:00+00:00
56
1800 - 1803
3
Department of Statistics, University of Oxford, Oxford, UK. sinan.shi@stats.ox.ac.uk.
Humans, Genomics, Gene Frequency, Haplotypes, Polymorphism, Single Nucleotide, Genome, Human, England, Genome-Wide Association Study, United Kingdom, White People, Exome Sequencing, UK Biobank