Dataset Information

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

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.

SUBMITTER: Costanzo MC

PROVIDER: S-EPMC10231654 | biostudies-literature | 2023 Apr

REPOSITORIES: biostudies-literature

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

Costanzo Maria C MC von Grotthuss Marcin M Massung Jeffrey J Jang Dongkeun D Caulkins Lizz L Koesterer Ryan R Gilbert Clint C Welch Ryan P RP Kudtarkar Parul P Hoang Quy Q Boughton Andrew P AP Singh Preeti P Sun Ying Y Duby Marc M Moriondo Annie A Nguyen Trang T Smadbeck Patrick P Alexander Benjamin R BR Brandes MacKenzie M Carmichael Mary M Dornbos Peter P Green Todd T Huellas-Bruskiewicz Kenneth C KC Ji Yue Y Kluge Alexandria A McMahon Aoife C AC Mercader Josep M JM Ruebenacker Oliver O Sengupta Sebanti S Spalding Dylan D Taliun Daniel D Smith Philip P Thomas Melissa K MK Akolkar Beena B Brosnan M Julia MJ Cherkas Andriy A Chu Audrey Y AY Fauman Eric B EB Fox Caroline S CS Kamphaus Tania Nayak TN Miller Melissa R MR Nguyen Lynette L Parsa Afshin A Reilly Dermot F DF Ruetten Hartmut H Wholley David D Zaghloul Norann A NA Abecasis Gonçalo R GR Altshuler David D Keane Thomas M TM McCarthy Mark I MI Gaulton Kyle J KJ Florez Jose C JC Boehnke Michael M Burtt Noël P NP Flannick Jason J

Cell metabolism 20230323 4

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 e ...[more]

PMID: 36963395

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Dataset Information

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

Publications

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

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