Imputation of low-coverage sequencing data from 150,119 UK Biobank genomes.

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Version: Final published version
License: CC BY 4.0
Serval ID
serval:BIB_11B2963EE6A6
Type
Article: article from journal or magazin.
Collection
Publications
Institution
Title
Imputation of low-coverage sequencing data from 150,119 UK Biobank genomes.
Journal
Nature genetics
Author(s)
Rubinacci S., Hofmeister R.J., Sousa da Mota B., Delaneau O.
ISSN
1546-1718 (Electronic)
ISSN-L
1061-4036
Publication state
Published
Issued date
07/2023
Peer-reviewed
Oui
Volume
55
Number
7
Pages
1088-1090
Language
english
Notes
Publication types: Journal Article ; Research Support, N.I.H., Extramural ; Research Support, Non-U.S. Gov't
Publication Status: ppublish
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.
Keywords
Gene Frequency, Biological Specimen Banks, Polymorphism, Single Nucleotide/genetics, Genome, United Kingdom, Genotype
Pubmed
Web of science
Open Access
Yes
Create date
03/07/2023 15:15
Last modification date
10/09/2024 6:18
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