Gene-based whole genome sequencing meta-analysis of 250 circulating proteins in three isolated European populations.

ABSTRACT:

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, boosting discovery power. However, the methods involved have largely not been field-tested. In this study, we aim to perform the first meta-analysis of gene-based rare variant aggregation optimal tests, applied to the human cardiometabolic proteome.

Methods

Here, we carry out this analysis across MANOLIS, Pomak and ORCADES, three isolated European cohorts with whole-ge

SUBMITTER: Gilly A 

PROVIDER: S-EPMC9118462 | biostudies-literature | 2022 Jul

REPOSITORIES: biostudies-literature