25 Scopus citations

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.

Original languageEnglish
Pages (from-to)695-710.e6
JournalCell metabolism
Volume35
Issue number4
DOIs
StatePublished - Apr 4 2023

Keywords

  • CMDKP
  • GWAS
  • T2DKP
  • data sharing
  • diabetes
  • effector genes
  • genetic associations
  • genetic support
  • genomics
  • portal

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