• 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 ...
    • Deciphering osteoarthritis genetics across 826,690 individuals from 9 populations 

      Boer, Cindy G.; Hatzikotoulas, Konstantinos; Southam, Lorraine; Stefánsdóttir, Lilja; Almeida, Rodrigo Coutinho de; Zhang, Yanfei; Wu, Tian T.; Zheng, Jie; Hartley, April; Teder-Laving, Maris; Skogholt, Anne Heidi; Terao, Chikashi; Zengini, Eleni; Alexiadis, George; Barysenka, Andrei; Bjornsdottir, Gyda; Gabrielsen, Maiken Elvestad; Gilly, Arthur; Ingvarsson, Thorvaldur; Johnsen, Marianne Bakke; Jonsson, Helgi; Kloppenburg, Margreet; Luetge, Almut; Lund, Sigrun H; Magi, Reedik; Mangino, Massimo; Nelissen, Rob G.H.H.; Shivakumar, Manu; Steinberg, Julia; Takuwa, Hiroshi; Thomas, Laurent; Tuerlings, Margo; Babis, George C.; Cheung, Jason Pui Yin; Kang, Jae Hee; Kraft, Peter; Lietman, Steven A.; Samartzis, Dino; Slagboom, P. Eline; Stefansson, Kari; Thorsteinsdottir, Unnur; Tobias, Jonathan H.; Uitterlinden, André G.; Winsvold, Bendik K S; Zwart, John Anker Henrik; Smith, George Davey; Sham, Pak Chung; Thorleifsson, Gudmar; Hveem, Kristian; Zeggini, Eleftheria (Peer reviewed; Journal article, 2021)
      Osteoarthritis affects over 300 million people worldwide. Here, we conduct a genome-wide association study meta-analysis across 826,690 individuals (177,517 with osteoarthritis) and identify 100 independently associated ...