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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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Detalles Bibliográficos
Autores principales:	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
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	Elsevier 2022
Materias:	Article
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9247822/ https://www.ncbi.nlm.nih.gov/pubmed/35568032 http://dx.doi.org/10.1016/j.ajhg.2022.04.009

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