P637: Reactive curation of monogenic gene-disease associations in a rapid genome sequencing lab*

Assessing the strength of a gene-disease association (GDA) is essential for accurate variant classification and reporting by diagnostic laboratories. The Clinical Genome Resource (ClinGen) established a framework for gene curation, the process of curating evidence and assessing the strength of a GDA, which has evolved since its initial dissemination in 2017. Several clinical laboratories have published on the integration of gene curation in their workflows and contributed to data harmonization efforts through the Gene Curation Coalition (GenCC) database.

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Publication Details

Journal
Genetics in Medicine Open
Published
2025-01-01
DOI
https://doi.org/10.1016/j.gimo.2025.103006
Primary Topic
Genomics and Rare Diseases
Type
article
Field-Weighted Citation Impact
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article

P637: Reactive curation of monogenic gene-disease associations in a rapid genome sequencing lab*

Arivudainambi Ramalingam, Deepali N. Shinde, Lucia Guidugli, Katarzyna A. Ellsworth et al.
Genetics in Medicine Open
Genomics and Rare Diseases
article

P637: Reactive curation of monogenic gene-disease associations in a rapid genome sequencing lab*

Arivudainambi Ramalingam, Deepali N. Shinde, Lucia Guidugli, Katarzyna A. Ellsworth, Jennifer Schleit, Katie Golden‐Grant, Kristina Robinson, Staffan Olsson, Rishona Lavy
article en

Abstract

Assessing the strength of a gene-disease association (GDA) is essential for accurate variant classification and reporting by diagnostic laboratories. The Clinical Genome Resource (ClinGen) established a framework for gene curation, the process of curating evidence and assessing the strength of a GDA, which has evolved since its initial dissemination in 2017. Several clinical laboratories have published on the integration of gene curation in their workflows and contributed to data harmonization efforts through the Gene Curation Coalition (GenCC) database.

Genetics in Medicine OpenVol. 3
Children’s Institute (US)
Zero hunger
Openalex Percentile: Top 94%
Genomics and Rare Diseases
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