Now showing items 1-2 of 2

    • Integrating Functional Data to Prioritize Causal Variants in Statistical Fine-Mapping Studies 

      Kichaev, Gleb; Yang, Wen-Yun; Lindstrom, Sara; Hormozdiari, Farhad; Eskin, Eleazar; Price, Alkes L.; Kraft, Peter; Pasaniuc, Bogdan (Public Library of Science, 2014)
      Standard statistical approaches for prioritization of variants for functional testing in fine-mapping studies either use marginal association statistics or estimate posterior probabilities for variants to be causal under ...
    • Rare Functional Variant in TM2D3 is Associated with Late-Onset Alzheimer's Disease 

      Jakobsdottir, Johanna; van der Lee, Sven J.; Bis, Joshua C.; Chouraki, Vincent; Li-Kroeger, David; Yamamoto, Shinya; Grove, Megan L.; Naj, Adam; Vronskaya, Maria; Salazar, Jose L.; DeStefano, Anita L.; Brody, Jennifer A.; Smith, Albert V.; Amin, Najaf; Sims, Rebecca; Ibrahim-Verbaas, Carla A.; Choi, Seung-Hoan; Satizabal, Claudia L.; Lopez, Oscar L.; Beiser, Alexa; Ikram, M. Arfan; Garcia, Melissa E.; Hayward, Caroline; Varga, Tibor V.; Ripatti, Samuli; Franks, Paul W.; Hallmans, Göran; Rolandsson, Olov; Jansson, Jan-Håkon; Porteous, David J.; Salomaa, Veikko; Eiriksdottir, Gudny; Rice, Kenneth M.; Bellen, Hugo J.; Levy, Daniel; Uitterlinden, Andre G.; Emilsson, Valur; Rotter, Jerome I.; Aspelund, Thor; O’Donnell, Christopher J.; Fitzpatrick, Annette L.; Launer, Lenore J.; Hofman, Albert; Wang, Li-San; Williams, Julie; Schellenberg, Gerard D.; Boerwinkle, Eric; Psaty, Bruce M.; Seshadri, Sudha; Shulman, Joshua M.; Gudnason, Vilmundur; van Duijn, Cornelia M. (Public Library of Science, 2016)
      We performed an exome-wide association analysis in 1393 late-onset Alzheimer’s disease (LOAD) cases and 8141 controls from the CHARGE consortium. We found that a rare variant (P155L) in TM2D3 was enriched in Icelanders ...