Whole-exome sequencing identifies rare genetic variants associated with human plasma metabolites.
Bomba L., Walter K., Guo Q., Surendran P., Kundu K., Nongmaithem S., Karim MA., Stewart ID., Langenberg C., Danesh J., Di Angelantonio E., Roberts DJ., Ouwehand WH., INTERVAL study None., Dunham I., Butterworth AS., Soranzo N.
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]