• 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 ...
    • An LDLR missense variant poses high risk of familial hypercholesterolemia in 30% of Greenlanders and offers potential of early cardiovascular disease intervention 

      Jørsboe, Emil; Andersen, Mette K.; Skotte, Line; Stæger, Frederik F.; Færgeman, Nils J.; Hanghøj, Kristian; Santander, Cindy G.; Senftleber, Ninna K.; Diaz, Lars J.; Overvad, Maria; Waples, Ryan K.; Geller, Frank; Bjerregaard, Peter; Melbye, Mads; Larsen, Christina V.L.; Feenstra, Bjarke; Koch, Anders; Jørgensen, Marit E.; Grarup, Niels; Moltke, Ida; Albrechtsen, Anders; Hansen, Torben (Peer reviewed; Journal article, 2022)
      The common Arctic-specific LDLR p.G137S variant was recently shown to be associated with elevated lipid levels. Motivated by this, we aimed to investigate the effect of p.G137S on metabolic health and cardiovascular disease ...
    • The population genomic legacy of the second plague pandemic 

      Gopalakrishnan, Shyam; Ebenesersdottir, S.Sunna; Lundstrøm, Inge K.C.; Turner-Walker, Gordon; Moore, Kristjan H.S.; Luisi, Pierre; Magaryan, Ashot; Martin, Michael D.; Ellegaard, Martin Rene; Magnusson, Olafur T.; Sigurdsson, Asgeir; Snorradóttir, Steinunn; Magnúsdóttir, Droplaug N.; Laffoon, Jason E.; van Dorp, Lucy; Liu, Xiaodong; Moltke, Ida; Avila-Arcos, María C.; Schraiber, Joshua G.; Rasmussen, Simon; Juan, David; Galabert, Pere; De-Dios, Toni; Fotakis, Anna K.; Iraeta-Orbegozo, Miren; Vågene, Åshild J.; Denham, Sean Dexter; Christophersen, Axel; Stenøien, Hans K.; Vieira, Filipe G.; Liu, Shanlin; Günther, Torsten; Kivisild, Toomas; Moseng, Ole Georg; Skar, Birgitte; Cheung, Christina; Sandoval-Velasco, Marcela; Wales, Nathan; Schroeder, Hannes; Campos, Paula F.; Gudmundsdottir, Valdis B; Sicheritz - Ponten, Thomas; Petersen, Bent; Halgunset, Jostein; Gilbert, Edmund; Cavalleri, Gianpiero L.; Hovig, Eivind; Kockum, Ingrid; Olsson, Tomas; Alfredsson, Lars; Hansen, Thomas F.; Werge, Thomas; Willerslev, Eske; Balloux, Francois; Marquès-Bonet, Tomás; Lalueza-Fox, Carles; Nielsen, Rasmus; Stefánsson, Kári; Helgason, Agnar; Gilbert, Thomas P. (Peer reviewed; Journal article, 2022)
      Human populations have been shaped by catastrophes that may have left long-lasting signatures in their genomes. One notable example is the second plague pandemic that entered Europe in ca. 1,347 CE and repeatedly returned ...
    • Population genomics of the Viking world 

      Margaryan, Ashot; Lawson, Daniel J.; Sikora, Martin; Racimo, Fernando; Rasmussen, Simon; Moltke, Ida; Cassidy, Lara M.; Jørsboe, Emil; Ingason, Andres; Pedersen, Mikkel Winther; Korneliussen, Thorfinn; Wilhelmson, Helene; Bus, Magdalena M.; de Barros Damgaard, Peter; Martiniano, Rui; Renaud, Gabriel; Bhérer, Claude; Moreno-Mayar, J. Víctor; Fotakis, Anna K.; Allen, Marie; Allmäe, Raili; Molak, Martyna; Cappellini, Enrico; Scorrano, Gabriele; McColl, Hugh; Buzhilova, Alexandra; Fox, Allison; Albrechtsen, Anders; Schütz, Berit; Skar, Birgitte; Arcini, Caroline; Falys, Ceri; Jonson, Charlotte Hedenstierna; Błaszczyk, Dariusz; Pezhemsky, Denis; Turner-Walker, Gordon; Gestsdóttir, Hildur; Lundstrøm, Inge; Gustin, Ingrid; Mainland, Ingrid; Potekhina, Inna; Muntoni, Italo M.; Cheng, Jade Y.; Stenderup, Jesper; Ma, Jilong; Gibson, Julie; Peets, Jüri; Gustafsson, Jörgen; Iversen, Katrine Højholt; Simpson, Linzi; Strand, Lisa Mariann; Loe, Louise; Sikora, Maeve; Florek, Marek; Vretemark, Maria; Redknap, Mark; Bajka, Monika; Pushkina, Tamara; Søvsø, Morten; Grigoreva, Natalia; Christensen, Tom; Kastholm, Ole; Uldum, Otto; Favia, Pasquale; Holck, Per; Sten, Sabine; Arge, Símun V; Ellingvåg, Sturla; Moiseyev, Vayacheslav; Bogdanowicz, Wiesław; Magnusson, Yvonne; Orlando, Ludovic; Pentz, Peter; Jessen, Mads Dengsø; Pedersen, Anne; Collard, Mark; Bradley, Daniel G.; Jørkov, Marie Louise; Arneborg, Jette; Lynnerup, Niels; Price, Neil; Gilbert, Marcus Thomas Pius; Allentoft, Morten E.; Bill, Jan; Sindbæk, Søren M; Hedeager, Lotte; Kristiansen, Kristian; Nielsen, Rasmus; Werge, Thomas; Willerslev, Eske (Peer reviewed; Journal article, 2020)
      The maritime expansion of Scandinavian populations during the Viking Age (about ad 750–1050) was a far-flung transformation in world history1,2. Here we sequenced the genomes of 442 humans from archaeological sites across ...