Urmo Võsa

Apr 2, 2024 | nature.com | Urmo Võsa

AbstractThe proteome holds great potential as an intermediate layer between the genome and phenome. Previous protein quantitative trait locus studies have focused mainly on describing the effects of common genetic variations on the proteome. Here, we assessed the impact of the common and rare genetic variations as well as the copy number variants (CNVs) on 326 plasma proteins measured in up to 500 individuals.

Mar 7, 2023 | nature.com | Hongyu Zhao |Urmo Võsa |Lude Franke |Alexis Battle |Alexander Teumer |Terho Lehtimäki | +2 more

AbstractMost existing TWAS tools require individual-level eQTL reference data and thus are not applicable to summary-level reference eQTL datasets. The development of TWAS methods that can harness summary-level reference data is valuable to enable TWAS in broader settings and enhance power due to increased reference sample size.