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The Type 2 Diabetes Knowledge Portal: An open access genetic resource dedicated to type 2 diabetes and related traits

Item Type:Article
Title:The Type 2 Diabetes Knowledge Portal: An open access genetic resource dedicated to type 2 diabetes and related traits
Creators Name:Costanzo, M.C. and von Grotthuss, M. and Massung, J. and Jang, D. and Caulkins, L. and Koesterer, R. and Gilbert, C. and Welch, R.P. and Kudtarkar, P. and Hoang, Q. and Boughton, A.P. and Singh, P. and Sun, Y. and Duby, M. and Moriondo, A. and Nguyen, T. and Smadbeck, P. and Alexander, B.R. and Brandes, M.K. and Carmichael, M. and Dornbos, P. and Green, T. and Huellas-Bruskiewicz, K.C. and Ji, Y. and Kluge, A. and McMahon, A.C. and Mercader, J.M. and Ruebenacker, O. and Sengupta, S. and Spalding, D. and Taliun, D. and Smith, P. and Thomas, M.K. and Akolkar, B. and Brosnan, M.J. and Cherkas, A. and Chu, A.Y. and Fauman, E.B. and Fox, C.S. and Kamphaus, T.N. and Miller, M.R. and Nguyen, L. and Parsa, A. and Reilly, D.F. and Ruetten, H. and Wholley, D. and Zaghloul, N.A. and Abecasis, G.R. and Altshuler, D. and Keane, T.M. and McCarthy, M.I. and Gaulton, K.J. and Florez, J.C. and Boehnke, M. and Burtt, N.P. and Flannick, J.
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.
Keywords:GWAS, Data Sharing, Portal, Genomics, Genetic Associations, Diabetes, T2DKP, CMDKP, Genetic Support, Effector Genes
Source:Cell Metabolism
Publisher:Cell Press
Page Range:695-710.e6
Date:4 April 2023
Official Publication:https://doi.org/10.1016/j.cmet.2023.03.001
PubMed:View item in PubMed

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