The Type 2 Diabetes Knowledge Portal: An open access genetic resource dedicated to type 2 diabetes and related traits
Year: 2023
Type: article
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.
Source: Cell Metabolism
Authors: Maria C. Costanzo, Marcin von Grotthuss, Jeffrey Massung, Dongkeun Jang, Lizz Caulkins, Ryan Koesterer, Clint Gilbert, Ryan P. Welch, Parul Kudtarkar, Quy Hoang, Andrew P. Boughton, Preeti Singh, Ying Sun, Marc Duby, Annie Moriondo, Trang Nguyen, Patrick Smadbeck, Benjamin R. Alexander, MacKenzie Brandes, Mary Carmichael, Peter Dornbos, Todd Green, Kenneth C. Huellas-Bruskiewicz, Yue Ji, Alexandria Kluge, Aoife C. McMahon, Josep M. Mercader, Oliver Ruebenacker, Sebanti Sengupta, Dylan Spalding, Daniel Taliun, Gonçalo Abecasis, Beena Akolkar, Benjamin R. Alexander, Nicholette D. Allred, David Altshuler, Jennifer E. Below, Richard Bergman, Joline W.J. Beulens, John Blangero, Michael Boehnke, Krister Bokvist, Erwin Bottinger, Andrew P. Boughton, Donald Bowden, M. Julia Brosnan, Christopher Brown, Kenneth Bruskiewicz, Noël P. Burtt, Mary Carmichael, Lizz Caulkins, Inês Cebola, John 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, Jesse M. Engreitz, Eric Fauman, Jorge Ferrer, Jason Flannick, Paul Flicek, Matthew Flickinger, Jose C. Florez, Caroline S. Fox, Timothy M. Frayling, Kelly A. Frazer, Kyle J. Gaulton, Clint Gilbert, Anna L. Gloyn, Todd Green, Craig L. Hanis, Robert Hanson, Andrew T. Hattersley, Quy Hoang, Hae Kyung Im, Sidra Iqbal, Suzanne B.R. Jacobs, Dong-Keun Jang, Tad Jordan, Tania Kamphaus, Fredrik Karpe, Thomas M. Keane, Seung K. Kim, Alexandria Kluge, Ryan Koesterer, Parul Kudtarkar, Kasper Lage, Leslie A. Lange, Mitchell Lazar, Donna Lehman, Ching-Ti Liu, Ruth J.F. Loos, Ronald Ching-wan Ma, Patrick MacDonald, Jeffrey Massung, Matthew T. Maurano, Mark I. McCarthy, Gil McVean, James B. Meigs, Josep M. Mercader, Melissa R. Miller, Braxton Mitchell, Karen L. Mohlke, Samuel Morabito, Claire Morgan, Shannon Mullican, Sharvari Narendra, Maggie C.Y. Ng, Lynette Nguyen, Colin N.A. Palmer, Stephen C.J. Parker, Antonio Parrado, Afshin Parsa, Aaron C. Pawlyk, Ewan R. Pearson, Andrew Plump, Michael Province, Thomas Quertermous, Susan Redline, Dermot F. Reilly, Bing Ren, Stephen S. Rich, J. Brent Richards, Jerome I. Rotter, Oliver Ruebenacker, Hartmut Ruetten, Rany M. Salem, Maike Sander, Michael Sanders, Dharambir Sanghera, Laura J. Scott, Sebanti Sengupta, David Siedzik, Xueling Sim, Preeti Singh, Robert Sladek, Kerrin Small, Philip Smith, Peter Stein, Dylan Spalding, Heather M. Stringham, Ying Sun, Katalin Susztak, Leen M. ’t Hart, Daniel Taliun, Kent Taylor, Melissa K. Thomas, Jennifer A. Todd, Miriam S. Udler, Benjamin Voight, Marcin von Grotthuss, Andre Wan, Ryan P. Welch, David Wholley, Kaan Yuksel, Norann A. Zaghloul, Philip Smith, Melissa K. Thomas, Beena Akolkar, M. Julia Brosnan, Andriy Cherkas, Audrey Y. Chu, Eric B. Fauman, Caroline S. Fox, Tania Nayak Kamphaus, Melissa R. Miller, Lynette Nguyen, Afshin Parsa, Dermot F. Reilly, Hartmut Ruetten, David Wholley, Norann A. Zaghloul, Gonçalo R. Abecasis, David Altshuler, Thomas M. Keane, Mark I. McCarthy, Kyle J. Gaulton, Jose C. Florez, Michael Boehnke, Noël P. Burtt, Jason Flannick
Institutions: Broad Institute, Harvard University, University of Michigan, University of California San Diego, Pfizer (United States), Boston Children's Hospital, European Bioinformatics Institute, Massachusetts Institute of Technology, Massachusetts General Hospital, Regeneron (United States), National Institute of Diabetes and Digestive and Kidney Diseases, Eli Lilly (United States), Sanofi (Germany), Merck & Co., Inc., Rahway, NJ, USA (United States), Foundation for the National Institutes of Health, Boehringer Ingelheim (Germany), Centre for Human Genetics, University of Oxford, Oxford Centre for Diabetes, Endocrinology and Metabolism
Language: English
Subfield: Genetics
Domain: Life Sciences
Open Access status: hybrid
Estimated APC paid: $9,080
Awards: G1101434941, G2503904646, G301048564, G307754679, G3409889404, G3475606702, G3673804865, G42520651, G4614542344, G4940423171, G5095704568, G5243773420, Epigenetic drivers and biomarkers of diabetic kidney disease, Integrating genome-scale data to reveal causal mechanisms in type 2 diabetes, Understanding regulatory variation in human diabetes., Clinical Implications of Genetically Defined Diabetes Subtypes and Application to Electronic Health Medical Record Systems, G8702410506, G8795285646, G9000119051, G9000142936, The role of cytosolic nucleotide sensors in inflammatory fibrosis, The next iteration of the AMP-T2D Knowledge Portal
OpenAlex ID: W4360610848