Evaluating the strength of evidence for genes implicated in peroxisomal disorders using the ClinGen clinical validity framework and providing updates to the peroxisomal disease nomenclature

Mohan, Shruthi; Mayers, Megan; Weaver, Meredith; Baudet, Heather; Biase, Irene De; Goldstein, Jennifer; Mao, Rong; McGlaughon, Jennifer; Moser, Ann; Pujol, Aurora; Suchy, Sharon F.; Yuzyuk, Tatiana; Braverman, Nancy

doi:10.1016/j.ymgme.2023.107604

Molecular Genetics and Metabolism

2023

DOI: 10.1016/j.ymgme.2023.107604

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Evaluating the strength of evidence for genes implicated in peroxisomal disorders using the ClinGen clinical validity framework and providing updates to the peroxisomal disease nomenclature

Shruthi Mohan

Megan Mayers

Meredith Weaver

et al.

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

Wright,

Thaxton,

Nelson

et al. 2024

Annual Review of Biomedical Data Science

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

Wright,

Thaxton,

Nelson

et al. 2024

Annual Review of Biomedical Data Science

View full text Add to dashboard Cite

show abstract

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Evaluating the strength of evidence for genes implicated in peroxisomal disorders using the ClinGen clinical validity framework and providing updates to the peroxisomal disease nomenclature

Cited by 1 publication

References 51 publications

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

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

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