Programs in Metabolism and Medical & Population Genetics, The Broad Institute of MIT and Harvard, Cambridge, MA 02132, USA.
Department of Biostatistics and The Center for Statistical Genetics, University of Michigan, Ann Arbor, MI 48109, USA.
Cell Metab. 2023 Apr 4;35(4):695-710.e6. doi: 10.1016/j.cmet.2023.03.001. Epub 2023 Mar 23.
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.
人类遗传变异与临床表型之间的关联已成为生物医学研究的基础。这些数据的大多数存储库都试图不针对特定疾病，因此缺乏针对特定疾病的观点。2 型糖尿病知识门户（T2DKP）是一个专门针对 2 型糖尿病（T2D）和相关特征的遗传数据集和基因组注释的公共资源。在这里，我们试图使 T2DKP 更容易被潜在用户使用，并使其对现有用户更有用。首先，我们通过比较 T2DKP 的数据集与其他存储库的数据集，评估 T2DKP 的全面性。其次，我们描述了不熟悉人类遗传数据的研究人员如何通过 T2DKP 开始使用和正确解释这些数据。第三，我们描述了现有用户如何扩展他们当前的工作流程，以使用 T2DKP 提供的全套工具。最后，我们讨论了 T2DKP 为实现复杂疾病遗传结果民主化访问所提供的经验教训。
