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Updated: Jul 25, 2025

Rare Event Detection Using Error-corrected DNA and RNA Sequencing
Published on: August 3, 2018
Imputation of low-coverage sequencing data from 150,119 UK Biobank genomes
Simone Rubinacci1,2, Robin J Hofmeister1,2, Bárbara Sousa da Mota1,2
1Department of Computational Biology, University of Lausanne, Lausanne, Switzerland.
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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