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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; von Grotthuss, Marcin; Massung, Jeffrey; Jang, Dongkeun; Caulkins, Lizz; Koesterer, Ryan; Gilbert, Clint; Welch, Ryan P; Kudtarkar, Parul; Hoang, Quy; Boughton, Andrew P; Singh, Preeti; Sun, Ying; Duby, Marc; Moriondo, Annie; Nguyen, Trang; Smadbeck, Patrick; Alexander, Benjamin R; Brandes, MacKenzie; Carmichael, Mary; Dornbos, Peter; Green, Todd; Huellas-Bruskiewicz, Kenneth C; Ji, Yue; Kluge, Alexandria; McMahon, Aoife C; Mercader, Josep M; Ruebenacker, Oliver; Sengupta, Sebanti; Spalding, Dylan; Taliun, Daniel; Smith, Philip; Thomas, Melissa K; Akolkar, Beena; Brosnan, M Julia; Cherkas, Andriy; Chu, Audrey Y; Fauman, Eric B; Fox, Caroline S; Kamphaus, Tania Nayak; Miller, Melissa R; Nguyen, Lynette; Parsa, Afshin; Reilly, Dermot F; Ruetten, Hartmut; Wholley, David; Zaghloul, Norann A; Abecasis, Gonçalo R; Altshuler, David; Keane, Thomas M.
Afiliación
  • Costanzo MC; Programs in Metabolism and Medical & Population Genetics, The Broad Institute of MIT and Harvard, Cambridge, MA 02132, USA.
  • von Grotthuss M; Programs in Metabolism and Medical & Population Genetics, The Broad Institute of MIT and Harvard, Cambridge, MA 02132, USA.
  • Massung J; Programs in Metabolism and Medical & Population Genetics, The Broad Institute of MIT and Harvard, Cambridge, MA 02132, USA.
  • Jang D; Programs in Metabolism and Medical & Population Genetics, The Broad Institute of MIT and Harvard, Cambridge, MA 02132, USA.
  • Caulkins L; Programs in Metabolism and Medical & Population Genetics, The Broad Institute of MIT and Harvard, Cambridge, MA 02132, USA.
  • Koesterer R; Programs in Metabolism and Medical & Population Genetics, The Broad Institute of MIT and Harvard, Cambridge, MA 02132, USA.
  • Gilbert C; Programs in Metabolism and Medical & Population Genetics, The Broad Institute of MIT and Harvard, Cambridge, MA 02132, USA.
  • Welch RP; Department of Biostatistics and The Center for Statistical Genetics, University of Michigan, Ann Arbor, MI 48109, USA.
  • Kudtarkar P; Department of Pediatrics, University of California San Diego, La Jolla, CA 92161, USA.
  • Hoang Q; Programs in Metabolism and Medical & Population Genetics, The Broad Institute of MIT and Harvard, Cambridge, MA 02132, USA.
  • Boughton AP; Department of Biostatistics and The Center for Statistical Genetics, University of Michigan, Ann Arbor, MI 48109, USA.
  • Singh P; Programs in Metabolism and Medical & Population Genetics, The Broad Institute of MIT and Harvard, Cambridge, MA 02132, USA.
  • Sun Y; Department of Pediatrics, University of California San Diego, La Jolla, CA 92161, USA.
  • Duby M; Programs in Metabolism and Medical & Population Genetics, The Broad Institute of MIT and Harvard, Cambridge, MA 02132, USA.
  • Moriondo A; Programs in Metabolism and Medical & Population Genetics, The Broad Institute of MIT and Harvard, Cambridge, MA 02132, USA.
  • Nguyen T; Programs in Metabolism and Medical & Population Genetics, The Broad Institute of MIT and Harvard, Cambridge, MA 02132, USA.
  • Smadbeck P; Programs in Metabolism and Medical & Population Genetics, The Broad Institute of MIT and Harvard, Cambridge, MA 02132, USA.
  • Alexander BR; Simulation and Modeling Sciences, Pfizer Worldwide Research, Development and Medical, Cambridge, MA 02139, USA.
  • Brandes M; Programs in Metabolism and Medical & Population Genetics, The Broad Institute of MIT and Harvard, Cambridge, MA 02132, USA.
  • Carmichael M; Programs in Metabolism and Medical & Population Genetics, The Broad Institute of MIT and Harvard, Cambridge, MA 02132, USA.
  • Dornbos P; Programs in Metabolism and Medical & Population Genetics, The Broad Institute of MIT and Harvard, Cambridge, MA 02132, USA; Department of Pediatrics, Boston Children's Hospital, Boston, MA 02115, USA; Department of Pediatrics, Harvard Medical School, Boston, MA 02115, USA.
  • Green T; Programs in Metabolism and Medical & Population Genetics, The Broad Institute of MIT and Harvard, Cambridge, MA 02132, USA.
  • Huellas-Bruskiewicz KC; Programs in Metabolism and Medical & Population Genetics, The Broad Institute of MIT and Harvard, Cambridge, MA 02132, USA.
  • Ji Y; European Molecular Biology Laboratory, European Bioinformatics Institute, Wellcome Genome Campus, Hinxton, Cambridge CB10 1SA, UK.
  • Kluge A; Genomics Platform, The Broad Institute of MIT and Harvard, Cambridge, MA 02132, USA.
  • McMahon AC; European Molecular Biology Laboratory, European Bioinformatics Institute, Wellcome Genome Campus, Hinxton, Cambridge CB10 1SA, UK.
  • Mercader JM; Programs in Metabolism and Medical & Population Genetics, The Broad Institute of MIT and Harvard, Cambridge, MA 02132, USA; Department of Medicine, Harvard Medical School, Boston, MA 02115, USA; Diabetes Unit and Center for Genomic Medicine, Massachusetts General Hospital, Boston, MA 02114, USA.
  • Ruebenacker O; Programs in Metabolism and Medical & Population Genetics, The Broad Institute of MIT and Harvard, Cambridge, MA 02132, USA.
  • Sengupta S; Department of Biostatistics and The Center for Statistical Genetics, University of Michigan, Ann Arbor, MI 48109, USA.
  • Spalding D; European Molecular Biology Laboratory, European Bioinformatics Institute, Wellcome Genome Campus, Hinxton, Cambridge CB10 1SA, UK.
  • Taliun D; Department of Biostatistics and The Center for Statistical Genetics, University of Michigan, Ann Arbor, MI 48109, USA.
  • Smith P; National Institute of Diabetes and Digestive and Kidney Diseases, Bethesda, MD 20892, USA.
  • Thomas MK; Tailored Therapeutics-Diabetes, Eli Lilly and Company, Lilly Corporate Center DC 0545, Indianapolis, IN 46285, USA.
  • Akolkar B; National Institute of Diabetes and Digestive and Kidney Diseases, Bethesda, MD 20892, USA.
  • Brosnan MJ; Internal Medicine Research Unit, Pfizer Worldwide Research, Development and Medical, Cambridge, MA 02139, USA.
  • Cherkas A; Team Early Projects Type 1 Diabetes, Therapeutic Area Diabetes and Cardiovascular Medicine, Research & Development, Sanofi, Industriepark Höchst-H831, Frankfurt am Main 65926, Germany.
  • Chu AY; Merck Research Laboratories, Boston, MA 02115, USA.
  • Fauman EB; Integrative Biology, Internal Medicine Research Unit, Pfizer Worldwide Research, Development and Medical, Cambridge, MA 02139, USA.
  • Fox CS; Merck Research Laboratories, Boston, MA 02115, USA.
  • Kamphaus TN; Foundation for the National Institutes of Health, North Bethesda, MD 20852, USA.
  • Miller MR; Internal Medicine Research Unit, Pfizer Worldwide Research, Development and Medical, Cambridge, MA 02139, USA.
  • Nguyen L; Foundation for the National Institutes of Health, North Bethesda, MD 20852, USA.
  • Parsa A; National Institute of Diabetes and Digestive and Kidney Diseases, Bethesda, MD 20892, USA.
  • Reilly DF; Janssen Pharmaceuticals Inc., Titusville, NJ 08560, USA.
  • Ruetten H; CardioMetabolism & Respiratory Medicine, Boehringer Ingelheim International GmbH, 55216 Ingelheim/Rhein, Germany.
  • Wholley D; Foundation for the National Institutes of Health, North Bethesda, MD 20852, USA.
  • Zaghloul NA; National Institute of Diabetes and Digestive and Kidney Diseases, Bethesda, MD 20892, USA.
  • Abecasis GR; Department of Biostatistics and The Center for Statistical Genetics, University of Michigan, Ann Arbor, MI 48109, USA; Regeneron Pharmaceuticals, Tarrytown, NY 10591, USA.
  • Altshuler D; Programs in Metabolism and Medical & Population Genetics, The Broad Institute of MIT and Harvard, Cambridge, MA 02132, USA.
  • Keane TM; European Molecular Biology Laboratory, European Bioinformatics Institute, Wellcome Genome Campus, Hinxton, Cambridge CB10 1SA, UK.
Cell Metab ; 35(4): 695-710.e6, 2023 04 04.
Article en En | MEDLINE | ID: mdl-36963395
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.
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Texto completo: 1 Colección: 01-internacional Banco de datos: MEDLINE Asunto principal: Diabetes Mellitus Tipo 2 Tipo de estudio: Observational_studies / Risk_factors_studies Límite: Humans Idioma: En Revista: Cell Metab Asunto de la revista: METABOLISMO Año: 2023 Tipo del documento: Article País de afiliación: Estados Unidos
Texto completo
Imprimir
XML
PubMed Links
Buscar en Google

Texto completo: 1 Colección: 01-internacional Banco de datos: MEDLINE Asunto principal: Diabetes Mellitus Tipo 2 Tipo de estudio: Observational_studies / Risk_factors_studies Límite: Humans Idioma: En Revista: Cell Metab Asunto de la revista: METABOLISMO Año: 2023 Tipo del documento: Article País de afiliación: Estados Unidos