Generating Clinical-Grade Gene–Disease Validity Classifications Through the ClinGen Data Platforms-Reference-Cited by-同舟云学术

Generating Clinical-Grade Gene–Disease Validity Classifications Through the ClinGen Data Platforms

Published:2024-08-23 Issue:1 Volume:7 Page:31-50
ISSN:2574-3414
Container-title:Annual Review of Biomedical Data Science
language:en
Short-container-title:

Author:

Wright Matt W.¹,Thaxton Courtney L.²,Nelson Tristan³,DiStefano Marina T.⁴,Savatt Juliann M.³,Brush Matthew H.⁵,Cheung Gloria¹,Mandell Mark E.¹,Wulf Bryan¹,Ward TJ²,Goehringer Scott³,O'Neill Terry⁴,Weller Phil³,Preston Christine G.¹,Keseler Ingrid M.¹,Goldstein Jennifer L.²,Strande Natasha T.³,McGlaughon Jennifer²,Azzariti Danielle R.⁴,Cordova Ineke³,Dziadzio Hannah⁴,Babb Lawrence⁴,Riehle Kevin⁶,Milosavljevic Aleksandar⁶,Martin Christa Lese³,Rehm Heidi L.⁴,Plon Sharon E.⁷⁶,Berg Jonathan S.²,Riggs Erin R.³,Klein Teri E.⁸¹

Affiliation:

1. 1Department of Biomedical Data Science, Stanford University School of Medicine, Stanford, California, USA; email: wrightmw@stanford.edu, teri.klein@stanford.edu

2. 2Department of Genetics, University of North Carolina, Chapel Hill, North Carolina, USA; email: courtney_thaxton@med.unc.edu

3. 3Geisinger, Danville, Pennsylvania, USA; email: thnelson@geisinger.edu

4. 4Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, Massachusetts, USA

5. 5Department of Biomedical Informatics, University of Colorado Anschutz Medical Campus, Aurora, Colorado, USA

6. 6Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas, USA

7. 7Department of Pediatrics, Division of Hematology-Oncology, Baylor College of Medicine, Houston, Texas, USA

8. 8Departments of Medicine (Biomedical Informatics Research) and Genetics, Stanford University School of Medicine, Stanford, California, USA

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.

Publisher

Annual Reviews

Link

https://www.annualreviews.org/content/journals/10.1146/annurev-biodatasci-102423-112456?crawler=true&mimetype=application/pdf

Reference57 articles.

1. OMIM.org: leveraging knowledge across phenotype–gene relationships;Nucleic Acids Res,2019

2. The HUGO Gene Nomenclature Committee (HGNC);Hum. Genet.,2001

3. A brief history of human disease genetics;Nature,2020

4. Looking back at 20 years of human genome sequencing;Science Podcast,2021

5. ClinGen—the Clinical Genome Resource;N. Engl. J. Med.,2015

Cited by 1 articles. 订阅此论文施引文献订阅此论文施引文献，注册后可以免费订阅5篇论文的施引文献，订阅后可以查看论文全部施引文献

1. Developing a scoring system for gene curation prioritization in lysosomal diseases;Molecular Genetics and Metabolism;2024-09