Cookies on this website
We use cookies to ensure that we give you the best experience on our website. If you click 'Continue' we'll assume that you are happy to receive all cookies and you won't see this message again. Click 'Find out more' for information on how to change your cookie settings.

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