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   Articles with "clingen" as a keyword



ClinGen Variant Curation Expert Panel experiences and standardized processes for disease and gene‐level specification of the ACMG/AMP guidelines for sequence variant interpretation

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recommendations! Published in 2018 at "Human Mutation"

DOI: 10.1002/humu.23645

Abstract: Genome‐scale sequencing creates vast amounts of genomic data, increasing the challenge of clinical sequence variant interpretation. The demand for high‐quality interpretation requires multiple specialties to join forces to accelerate the interpretation of sequence variant pathogenicity.… read more here.

Keywords: interpretation; sequence variant; curation; clingen ... See more keywords

A case for expert curation: an overview of cancer curation in the Clinical Genome Resource (ClinGen)

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recommendations! Published in 2019 at "Cold Spring Harbor Molecular Case Studies"

DOI: 10.1101/mcs.a004739

Abstract: We describe the Clinical Genome Resource (ClinGen) cancer-related curation activities and the importance of curation to the evolving state of variant interpretation in a clinical context for both pediatric and adult cancer patients. We highlight… read more here.

Keywords: genome resource; clinical genome; case; curation ... See more keywords

Accessing clinical-grade genomic classification data through the ClinGen Data Platform

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recommendations! Published in 2022 at "Pacific Symposium on Biocomputing. Pacific Symposium on Biocomputing"

DOI: 10.1142/9789811270611_0048

Abstract: The Clinical Genome Resource (ClinGen) serves as an authoritative resource on the clinical relevance of genes and variants. In order to support our curation activities and to disseminate our findings to the community, we have… read more here.

Keywords: grade genomic; data platform; clingen; clinical grade ... See more keywords

ClinGen Cancer Somatic Working Group - Standardizing and democratizing access to cancer molecular diagnostic data to drive translational research

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recommendations! Published in 2018 at "Pacific Symposium on Biocomputing. Pacific Symposium on Biocomputing"

DOI: 10.1142/9789813235533_0023

Abstract: A growing number of academic and community clinics are conducting genomic testing to inform treatment decisions for cancer patients (1). In the last 3-5 years, there has been a rapid increase in clinical use of… read more here.

Keywords: research; treatment; cancer molecular; cancer ... See more keywords

Abstract 4341994: Penetrance of Cardiomyopathy-Associated Variants in a Population-Based Cohort Supports ClinGen Gene Validity Classifications

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recommendations! Published in 2025 at "Circulation"

DOI: 10.1161/circ.152.suppl_3.4341994

Abstract: Introduction: Cardiomyopathies, including hypertrophic (HCM) and dilated (DCM), are heterogeneous heart muscle disorders contributing significantly to heart failure, arrhythmias, and sudden cardiac death. While guidelines recommend genetic testing for affected individuals and relatives, uncertainty persists… read more here.

Keywords: clingen; definitive strong; cohort; penetrance ... See more keywords