小柯机器人

美国麻省理工学院和哈佛大学布罗德研究所Jason Flannick和Noël P. Burtt小组合作在研究中取得进展。他们建立了2型糖尿病（T2D）知识门户网站（T2DKP），致力于2型糖尿病及其相关特征的开放获取遗传资源。该研究于2023年3月23日发表于国际学术期刊《细胞-代谢》杂志上。

研究人员对T2DKP进行优化以便其更容易被潜在用户访问并产生对现有用户更大的作用。首先，研究通过将其数据集与其他存储库的数据集进行比较来评估T2DKP的全面性。其次，研究模拟了不熟悉人类遗传数据的研究人员如何通过T2DKP开始使用这些数据和正确解释它们。第三，研究人员描述了现有用户如何扩展其当前工作流程以使用T2DKP所提供的全套工具。最后，研究为T2DKP在实现复杂疾病遗传结果易获得性方面提供了经验。

据介绍，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。这些数据库中大多数存储数据都与疾病无关，因此缺乏以疾病为中心的数据库。2型糖尿病知识门户网站是专门针对2型糖尿病和相关性状的遗传数据集和基因组注释公共资源网站。

附：英文原文

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

Author: 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, Gonalo 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, Nol 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

Issue&Volume: 2023-03-23

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.

DOI: 10.1016/j.cmet.2023.03.001

Source: https://www.cell.com/cell-metabolism/fulltext/S1550-4131(23)00079-7

Cell Metabolism：《细胞—代谢》，创刊于2005年。隶属于细胞出版社，最新IF：31.373
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