Last updated:
Author(s):
Simone Rubinacci, Robin J. Hofmeister, Bárbara Sousa da Mota, Olivier Delaneau
Publish date:
29 June 2023
Journal:
Nature Genetics
PubMed ID:
37386250

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.

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Institution:
University of Lausanne, Switzerland

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