cardiodb.org
Imperial College London · MRC Laboratory of Medical Sciences
Public research applications, variant interpretation tools and curated genomics resources from the cvgenetics group.
Applications and websites based on published research studies, available for researchers, clinicians and the wider genomics community. These resources provide tools and curated datasets to support genetic variant interpretation, explore the genetic basis of inherited cardiac conditions and help translate research findings into clinical understanding.
A suite of tools supporting allele frequency information for assessment of rare genetic variants in Mendelian disease.
Microsite describing TTN transcript and exon structure and truncating variants associated with dilated cardiomyopathy.
Uses ACMG rules for variant interpretation to classify variants associated with inherited cardiac conditions.
Interactive web application to explore genomic data related to Hypertrophic Cardiomyopathy.
Supports application of ACMG PS4 criterion comparing variant prevalence in affected individuals and controls.
Uses adaptive boosting machine learning to discriminate benign and pathogenic variants in inherited cardiac condition genes.
An integrated toolset for the analysis of de novo genetic sequence variants.
Uses evolutionarily related proteins to inform the clinical significance of missense variants associated with human diseases.
Measures genetic intolerance information to inform the clinical significance of missense variants.
An evidence-based dataset for inherited cardiac condition gene-disease pairs.
Genome Medicine 2025
Applications and websites developed from published research studies for researchers, clinicians and the wider genomics community. These resources are no longer actively maintained or have become outdated as larger datasets and new scientific knowledge have emerged.
Assesses gene and variant pathogenicity in cardiomyopathies by comparing large clinical cohorts with ExAC population data.
Assesses paralogue annotation to help determine pathogenicity of novel variants in inherited arrhythmias.
Integrates multiple lines of evidence to estimate the probability that a rare genetic variant causes LQTS.
A direct-to-patient recruitment portal for cardiovascular health research.
A public system for developing, validating, curating and distributing evidence-based datasets for diagnostic variant filtering.
Aggregated and harmonized exome and genome sequencing summary data for the wider scientific community.
An interactive database with tools to aid interpretation of genomic variation and phenotype in humans.
A coalition supporting consistent public sharing and terminology for gene-disease validity assessment.
