학술논문
The Type 2 Diabetes Knowledge Portal: An open access genetic resource dedicated to type 2 diabetes and related traits
Document Type
article
Author
Costanzo, Maria C; von Grotthuss, Marcin; Massung, Jeffrey; Jang, Dongkeun; Caulkins, Lizz; Koesterer, Ryan; Gilbert, Clint; Welch, Ryan P; Kudtarkar, Parul; Hoang, Quy; Boughton, Andrew P; Singh, Preeti; Sun, Ying; Duby, Marc; Moriondo, Annie; Nguyen, Trang; Smadbeck, Patrick; Alexander, Benjamin R; Brandes, MacKenzie; Carmichael, Mary; Dornbos, Peter; Green, Todd; Huellas-Bruskiewicz, Kenneth C; Ji, Yue; Kluge, Alexandria; McMahon, Aoife C; Mercader, Josep M; Ruebenacker, Oliver; Sengupta, Sebanti; Spalding, Dylan; Taliun, Daniel; Consortium, AMP-T2D; Abecasis, Gonçalo; Akolkar, Beena; Allred, Nicholette D; Altshuler, David; Below, Jennifer E; Bergman, Richard; Beulens, Joline WJ; Blangero, John; Boehnke, Michael; Bokvist, Krister; Bottinger, Erwin; Bowden, Donald; Brosnan, M Julia; Brown, Christopher; Bruskiewicz, Kenneth; Burtt, Noël P; Cebola, Inês; Chambers, John; Chen, Yii-Der Ida; Cherkas, Andriy; Chu, Audrey Y; Clark, Christopher; Claussnitzer, Melina; Cox, Nancy J; Hoed, Marcel den; Dong, Duc; Duggirala, Ravindranath; Dupuis, Josée; Elders, Petra JM; Engreitz, Jesse M; Fauman, Eric; Ferrer, Jorge; Flannick, Jason; Flicek, Paul; Flickinger, Matthew; Florez, Jose C; Fox, Caroline S; Frayling, Timothy M; Frazer, Kelly A; Gaulton, Kyle J; Gloyn, Anna L; Hanis, Craig L; Hanson, Robert; Hattersley, Andrew T; Im, Hae Kyung; Iqbal, Sidra; Jacobs, Suzanne BR; Jang, Dong-Keun; Jordan, Tad; Kamphaus, Tania; Karpe, Fredrik; Keane, Thomas M; Kim, Seung K; Lage, Kasper; Lange, Leslie A; Lazar, Mitchell
Source
Cell Metabolism. 35(4)
Subject
Language
Abstract
Associations between human genetic variation and clinical phenotypes have become a foundation of biomedical research. Most repositories of these data seek to be disease-agnostic and therefore lack disease-focused views. The Type 2 Diabetes Knowledge Portal (T2DKP) is a public resource of genetic datasets and genomic annotations dedicated to type 2 diabetes (T2D) and related traits. Here, we seek to make the T2DKP more accessible to prospective users and more useful to existing users. First, we evaluate the T2DKP's comprehensiveness by comparing its datasets with those of other repositories. Second, we describe how researchers unfamiliar with human genetic data can begin using and correctly interpreting them via the T2DKP. Third, we describe how existing users can extend their current workflows to use the full suite of tools offered by the T2DKP. We finally discuss the lessons offered by the T2DKP toward the goal of democratizing access to complex disease genetic results.