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Generating Clinical-Grade Gene-Disease Validity Classifications Through the ClinGen Data Platforms.
Wright, Matt W; Thaxton, Courtney L; Nelson, Tristan; DiStefano, Marina T; Savatt, Juliann M; Brush, Matthew H; Cheung, Gloria; Mandell, Mark E; Wulf, Bryan; Ward, T J; Goehringer, Scott; O'Neill, Terry; Weller, Phil; Preston, Christine G; Keseler, Ingrid M; Goldstein, Jennifer L; Strande, Natasha T; McGlaughon, Jennifer; Azzariti, Danielle R; Cordova, Ineke; Dziadzio, Hannah; Babb, Lawrence; Riehle, Kevin; Milosavljevic, Aleksandar; Martin, Christa Lese; Rehm, Heidi L; Plon, Sharon E; Berg, Jonathan S; Riggs, Erin R; Klein, Teri E.
Afiliação
  • Wright MW; Department of Biomedical Data Science, Stanford University School of Medicine, Stanford, California, USA; email: wrightmw@stanford.edu, teri.klein@stanford.edu.
  • Thaxton CL; Department of Genetics, University of North Carolina, Chapel Hill, North Carolina, USA; email: courtney_thaxton@med.unc.edu.
  • Nelson T; Geisinger, Danville, Pennsylvania, USA; email: thnelson@geisinger.edu.
  • DiStefano MT; Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, Massachusetts, USA.
  • Savatt JM; Geisinger, Danville, Pennsylvania, USA; email: thnelson@geisinger.edu.
  • Brush MH; Department of Biomedical Informatics, University of Colorado Anschutz Medical Campus, Aurora, Colorado, USA.
  • Cheung G; Department of Biomedical Data Science, Stanford University School of Medicine, Stanford, California, USA; email: wrightmw@stanford.edu, teri.klein@stanford.edu.
  • Mandell ME; Department of Biomedical Data Science, Stanford University School of Medicine, Stanford, California, USA; email: wrightmw@stanford.edu, teri.klein@stanford.edu.
  • Wulf B; Department of Biomedical Data Science, Stanford University School of Medicine, Stanford, California, USA; email: wrightmw@stanford.edu, teri.klein@stanford.edu.
  • Ward TJ; Department of Genetics, University of North Carolina, Chapel Hill, North Carolina, USA; email: courtney_thaxton@med.unc.edu.
  • Goehringer S; Geisinger, Danville, Pennsylvania, USA; email: thnelson@geisinger.edu.
  • O'Neill T; Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, Massachusetts, USA.
  • Weller P; Geisinger, Danville, Pennsylvania, USA; email: thnelson@geisinger.edu.
  • Preston CG; Department of Biomedical Data Science, Stanford University School of Medicine, Stanford, California, USA; email: wrightmw@stanford.edu, teri.klein@stanford.edu.
  • Keseler IM; Department of Biomedical Data Science, Stanford University School of Medicine, Stanford, California, USA; email: wrightmw@stanford.edu, teri.klein@stanford.edu.
  • Goldstein JL; Department of Genetics, University of North Carolina, Chapel Hill, North Carolina, USA; email: courtney_thaxton@med.unc.edu.
  • Strande NT; Geisinger, Danville, Pennsylvania, USA; email: thnelson@geisinger.edu.
  • McGlaughon J; Department of Genetics, University of North Carolina, Chapel Hill, North Carolina, USA; email: courtney_thaxton@med.unc.edu.
  • Azzariti DR; Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, Massachusetts, USA.
  • Cordova I; Geisinger, Danville, Pennsylvania, USA; email: thnelson@geisinger.edu.
  • Dziadzio H; Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, Massachusetts, USA.
  • Babb L; Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, Massachusetts, USA.
  • Riehle K; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas, USA.
  • Milosavljevic A; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas, USA.
  • Martin CL; Geisinger, Danville, Pennsylvania, USA; email: thnelson@geisinger.edu.
  • Rehm HL; Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, Massachusetts, USA.
  • Plon SE; Department of Pediatrics, Division of Hematology-Oncology, Baylor College of Medicine, Houston, Texas, USA.
  • Berg JS; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas, USA.
  • Riggs ER; Department of Genetics, University of North Carolina, Chapel Hill, North Carolina, USA; email: courtney_thaxton@med.unc.edu.
  • Klein TE; Geisinger, Danville, Pennsylvania, USA; email: thnelson@geisinger.edu.
Annu Rev Biomed Data Sci ; 7(1): 31-50, 2024 Aug.
Article em En | MEDLINE | ID: mdl-38663031
ABSTRACT
Clinical genetic laboratories must have access to clinically validated biomedical data for precision medicine. A lack of accessibility, normalized structure, and consistency in evaluation complicates interpretation of disease causality, resulting in confusion in assessing the clinical validity of genes and genetic variants for diagnosis. A key goal of the Clinical Genome Resource (ClinGen) is to fill the knowledge gap concerning the strength of evidence supporting the role of a gene in a monogenic disease, which is achieved through a process known as Gene-Disease Validity curation. Here we review the work of ClinGen in developing a curation infrastructure that supports the standardization, harmonization, and dissemination of Gene-Disease Validity data through the creation of frameworks and the utilization of common data standards. This infrastructure is based on several applications, including the ClinGen GeneTracker, Gene Curation Interface, Data Exchange, GeneGraph, and website.
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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Bases de Dados Genéticas Limite: Humans Idioma: En Revista: Annu Rev Biomed Data Sci Ano de publicação: 2024 Tipo de documento: Article
Texto completo
Imprimir
XML
PubMed Links
Buscar no Google

Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Bases de Dados Genéticas Limite: Humans Idioma: En Revista: Annu Rev Biomed Data Sci Ano de publicação: 2024 Tipo de documento: Article