Browsing Institutt for matematiske fag by Author "Zeggini, Eleftheria"
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Cohort-wide deep whole genome sequencing and the allelic architecture of complex traits
Gilly, Arthur; Suveges, Daniel; Kuchenbaecker, Karoline; Pollard, Martin; Southam, Lorraine; Hatzikotoulas, Konstantinos; Farmaki, Aliki-Eleni; Bjørnland, Thea; Waples, Ryan; Appel, Emil; Casalone, Elisabetta; Melloni, Giorgio; Kilian, Britt; Rayner, William; Ntalla, Ioanna; Kundu, Kousik; Walter, Klaudia; Danesh, John; Butterworth, Adam; Barroso, Ines; Tsafantakis, Emmanouil; Dedoussis, George; Moltke, Ida; Zeggini, Eleftheria (Journal article; Peer reviewed, 2018)The role of rare variants in complex traits remains uncharted. Here, we conduct deep whole genome sequencing of 1457 individuals from an isolated population, and test for rare variant burdens across six cardiometabolic ... -
Whole-genome sequencing analysis of the cardiometabolic proteome
Gilly, Arthur; Park, Young-Chen; Png, Grace; Barysenka, Andrei; Fischer, Iris; Bjørnland, Thea; Southam, Lorraine; Suveges, Daniel; Neumeyer, Sonja; Rayner, William; Tsafantakis, Emmanouil; Karaleftheri, Maria; Dedoussis, George; Zeggini, Eleftheria (Journal article; Peer reviewed, 2020)The human proteome is a crucial intermediate between complex diseases and their genetic and environmental components, and an important source of drug development targets and biomarkers. Here, we comprehensively assess the ...