Article
Gene-based whole genome sequencing meta-analysis of 250 circulating proteins in three isolated European populations.
Molecular metabolism - 1 Jul 2022
Gilly Arthur, Klaric Lucija, Park Young-Chan, Png Grace, Barysenka Andrei, Marsh Joseph A, Tsafantakis Emmanouil, Karaleftheri Maria, Dedoussis George, Wilson James F, Zeggini Eleftheria
Abstract excerpt
OBJECTIVE: Deep sequencing offers unparalleled access to rare variants in human populations. Understanding their role in disease is a priority, yet prohibitive sequencing costs mean that many cohorts lack the sample size to discover these effects on their own. Meta-analysis of individual variant scores allows the combination of rare variants across cohorts and study of their aggregated effect at the gene level,...
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