Whole-exome sequencing identifies rare genetic variants associated with human plasma metabolites

Whole-exome sequencing identifies rare genetic variants associated with human plasma metabolites

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 mu...

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Veröffentlicht in:American journal of human genetics 2022-06, Vol.109 (6), p.1038-1054
Hauptverfasser: Bomba, Lorenzo, Walter, Klaudia, Guo, Qi, Surendran, Praveen, Kundu, Kousik, Nongmaithem, Suraj, Karim, Mohd Anisul, Stewart, Isobel D., Langenberg, Claudia, Danesh, John, Di Angelantonio, Emanuele, Roberts, David J., Ouwehand, Willem H., Dunham, Ian, Butterworth, Adam S., Soranzo, Nicole
Format: Artikel
Sprache:eng
Schlagworte:
drug targets
endophenotypes
Exome - genetics
Exome Sequencing - methods
Gene Frequency - genetics
Humans
loss-of-function
metabolomics
metabolon
Prospective Studies
proteomics
rare genetic variant
sequencing
WES
WGS
Whole Genome Sequencing
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Zusammenfassung: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] 
ISSN:0002-9297
1537-6605
DOI:10.1016/j.ajhg.2022.04.009