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

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 sequencin...

Descripción completa

Detalles Bibliográficos
Autores principales: Rubinacci, Simone, Hofmeister, Robin J., Sousa da Mota, Bárbara, Delaneau, Olivier
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Nature Publishing Group US 2023
Materias:
Brief Communication
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10335927/
https://www.ncbi.nlm.nih.gov/pubmed/37386250
http://dx.doi.org/10.1038/s41588-023-01438-3
Descripción
Sumario: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.

Ejemplares similares