ArticleGenome medicine2023
Beyond gene-disease validity: capturing structured data on inheritance, allelic requirement, disease-relevant variant classes, and disease mechanism for inherited cardiac conditions.
Article in Genome medicine, 2023. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 17 papers, 1 of them a synthesis that pooled it.
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Who cites it
17 citing papers in PubMed, 1 synthesis or guideline pooled it.
- Natural History, Phenotype Spectrum, and Clinical Outcomes of Desmin (Circulation. Genomic and precision medicine · 2025Pooled it
- What Should a Clinical Cardiologist Know About Cardiogenetics?Journal of the American Heart Association · 2025Review
- Circulating Cardiovascular Proteomic Associations With Genetics and Disease.Circulation. Genomic and precision medicine · 2025Article
- High Burden of Ventricular Arrhythmias and Cardiac Conduction Disease in Pediatric Patients with Pathogenic Desmin (medRxiv : the preprint server for health sciences · 2025Article
- New Genetic Loci Implicated in Cardiac Morphology and Function Using Three-Dimensional Population Phenotyping.Circulation. Genomic and precision medicine · 2025Article
- Sex Differences in the Genetic Causes of Dilated Cardiomyopathy.Journal of the American College of Cardiology · 2025Article
- Variant sub-tiering, disease-gene associations and strictness of clinical criteria improves the interpretation of variants of uncertain significance in hereditary cardiomyopathies and rhythm disorders.Journal of human genetics · 2025Article
- Data Interoperability and Harmonization in Cardiovascular Genomic and Precision Medicine.Circulation. Genomic and precision medicine · 2025Review
- Genes Associated With Hypertrophic Cardiomyopathy: A Reappraisal by the ClinGen Hereditary Cardiovascular Disease Gene Curation Expert Panel.Journal of the American College of Cardiology · 2025Article
- Genome-wide association analysis provides insights into the molecular etiology of dilated cardiomyopathy.Nature genetics · 2024Article
- Genetic and phenotypic architecture of human myocardial trabeculation.Nature cardiovascular research · 2024Article
- Curating genomic disease-gene relationships with Gene2Phenotype (G2P).Genome medicine · 2024Article
- The Genetic Factors Influencing Cardiomyopathies and Heart Failure across the Allele Frequency Spectrum.Journal of cardiovascular translational research · 2024Review
- Natural History, Phenotype Spectrum and Clinical Outcomes of Desmin (medRxiv : the preprint server for health sciences · 2024Article
- ClinGen Hereditary Cardiovascular Disease Gene Curation Expert Panel: Reappraisal of Genes associated with Hypertrophic Cardiomyopathy.medRxiv : the preprint server for health sciences · 2024Article
- Toward robust clinical genome interpretation: Developing a consistent terminology to characterize Mendelian disease-gene relationships-allelic requirement, inheritance modes, and disease mechanisms.Genetics in medicine : official journal of the American College of Medical Genetics · 2024Article
- The penetrance of rare variants in cardiomyopathy-associated genes: A cross-sectional approach to estimating penetrance for secondary findings.American journal of human genetics · 2023Article
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35 authors.
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Abstract
backgroundAs the availability of genomic testing grows, variant interpretation will increasingly be performed by genomic generalists, rather than domain-specific experts. Demand is rising for laboratories to accurately classify variants in inherited cardiac condition (ICC) genes, including secondary findings.
methodsWe analyse evidence for inheritance patterns, allelic requirement, disease mechanism and disease-relevant variant classes for 65 ClinGen-curated ICC gene-disease pairs. We present this information for the first time in a structured dataset, CardiacG2P, and assess application in genomic variant filtering.
resultsFor 36/65 gene-disease pairs, loss of function is not an established disease mechanism, and protein truncating variants are not known to be pathogenic. Using the CardiacG2P dataset as an initial variant filter allows for efficient variant prioritisation whilst maintaining a high sensitivity for retaining pathogenic variants compared with two other variant filtering approaches.
conclusionsAccess to evidence-based structured data representing disease mechanism and allelic requirement aids variant filtering and analysis and is a pre-requisite for scalable genomic testing.
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