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Metabolite levels measured in the human population are endophenotypes for biological processes. We combined sequencing data for 3,924 (whole-exome sequencing, WES, discovery) and 2,805 (whole-genome sequencing, WGS, replication) donors from a prospective cohort of blood donors in England. We used multiple approaches to select and aggregate rare genetic variants (minor allele frequency [MAF] 

Original publication

DOI

10.1016/j.ajhg.2022.04.009

Type

Journal article

Journal

American journal of human genetics

Publication Date

06/2022

Volume

109

Pages

1038 - 1054

Addresses

Wellcome Sanger Institute, Wellcome Genome Campus, Hinxton CB10 1SA, UK; Open Targets, Wellcome Genome Campus, Hinxton CB10 1SD, UK.

Keywords

INTERVAL study, Humans, Prospective Studies, Gene Frequency, Exome, Whole Genome Sequencing, Whole Exome Sequencing