| Title: | Imputation of low-coverage sequencing data from 150,119 UK Biobank genomes |
| Journal: | Nature Genetics |
| Published: | 29 Jun 2023 |
| Pubmed: | https://pubmed.ncbi.nlm.nih.gov/37386250/ |
| DOI: | https://doi.org/10.1038/s41588-023-01438-3 |
| URL: | https://www.nature.com/articles/s41588-023-01438-3.pdf |
| Citations: | 32 (32 in last 2 years) as of 8 Aug 2024 |
Publication 10915
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Abstract
The release of 150,119 UK Biobank sequences represents an unprecedented opportunity as a reference panel to impute low-coverage whole-genome sequencing data with high accuracy but current methods cannot cope with the size of the data. Here we introduce GLIMPSE2, a low-coverage whole-genome sequencing imputation method that scales sublinearly in both the number of samples and markers, achieving efficient whole-genome imputation from the UK Biobank reference panel while retaining high accuracy for ancient and modern genomes, particularly at rare variants and for very low-coverage samples.</p>
4 Authors
- Simone Rubinacci
- Robin J. Hofmeister
- Bárbara Sousa da Mota
- Olivier Delaneau
1 Application
| Application ID | Title |
|---|---|
| 66995 | Prediction of haplotypes, genotypes, parental-of-origin and applications in biobanks. |
Enabling scientific discoveries that improve human health