The Type 2 Diabetes Knowledge Portal: An open access genetic resource dedicated to type 2 diabetes and related traits
Maria C. Costanzo, Marcin von Grotthuss, Jeffrey Massung, Dongkeun Jang, Lizz Caulkins, Ryan Koesterer, Clint Gilbert, Ryan Welch, Parul Kudtarkar, Quy Hoang, Andrew P. Boughton, Preeti Singh, Ying Sun, Marc Duby, Annie Moriondo, Trang Thi Huyen Nguyen, Patrick Smadbeck, Benjamin Alexander, MacKenzie Brandes, Mary Carmichael, Peter Dornbos, Todd J. Green, Kenneth C. Huellas-Bruskiewicz, Yue Ji, Alexandria Kluge, Aoife McMahon, Josep M. Mercader, Oliver Ruebenacker, Sebanti Sengupta, Dylan Spalding, Daniel Taliun, Gonçalo R. Abecasis, Beena Akolkar, Benjamin Alexander, Nicholette D. Allred, David Altshuler, Jennifer E. Below, Richard N. Bergman, Joline W. J. Beulens, John Blangero, Michael Boehnke, Krister Bokvist, Erwin Böttinger, Andrew P. Boughton, Donald W. Bowden, M. Julia Brosnan, Christopher D. Brown, Kenneth Bruskiewicz, Noël P. Burtt, Mary Carmichael, Lizz Caulkins, Inês Cebola, John C. Chambers, Yii‐Der Ida Chen, Andriy Cherkas, Audrey Y. Chu, Christopher Clark, Melina Claussnitzer, Maria C. Costanzo, Nancy J. Cox, Marcel den Hoed, Duc Dong, Marc Duby, Ravindranath Duggirala, Josée Dupuis, Petra J. M. Elders, J Engreitz, Eric B. Fauman, Jorge Ferrer, Jason Flannick, Paul Flicek, Matthew Flickinger, José C. Florez, Caroline S. Fox, Timothy M. Frayling, Kelly A. Frazer, Kyle J. Gaulton, Clint Gilbert, Anna L. Gloyn, Todd J. Green, Craig L. Hanis, Robert L. Hanson, Andrew T. Hattersley, Quy Hoang, Hae Kyung Im, Sidra Iqbal, Suzanne B.R. Jacobs, Dongkeun Jang, Tad Jordan, Tania N. Kamphaus, Fredrik Karpe, Thomas Keane, Seung K. Kim, Alexandria Kluge, Ryan Koesterer, Parul Kudtarkar, Kasper Lage, Leslie A. Lange, Mitchell A. Lazar, Donna M. Lehman
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.