| Title: | A Genomics England haplotype reference panel and imputation of UK Biobank |
| Journal: | Nature Genetics |
| Published: | 12 Aug 2024 |
| Pubmed: | https://pubmed.ncbi.nlm.nih.gov/39134668/ |
| DOI: | https://doi.org/10.1038/s41588-024-01868-7 |
Publication 12999
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Abstract
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.</p>
10 Authors
- Sinan Shi
- Simone Rubinacci
- Sile Hu
- Loukas Moutsianas
- Alex Stuckey
- Anna C. Need
- Pier Francesco Palamara
- Mark Caulfield
- Jonathan Marchini
- Simon Myers
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