cardiodb.org
Imperial College London · MRC Laboratory of Medical Sciences · Royal Brompton & Harefield Hospitals
Public research applications, variant interpretation tools and curated genomics resources from the group.
Major resources and applications
Applications and websites based on published research studies, available for researchers, clinicians and the wider genomics community.
Uses ACMG rules for variant interpretation to classify variants associated with inherited cardiac conditions.
A suite of tools supporting allele frequency information for assessment of rare genetic variants in Mendelian disease.
Assesses gene and variant pathogenicity in cardiomyopathies by comparing large clinical cohorts with ExAC population data.
Microsite describing TTN transcript and exon structure and truncating variants associated with dilated cardiomyopathy.
Uses adaptive boosting machine learning to discriminate benign and pathogenic variants in inherited cardiac condition genes.
Interactive browser for Imperial Cardio Genetics archive sample and variant-level research data.
Uses evolutionarily related proteins to inform the clinical significance of missense variants associated with human diseases.
An integrated toolset for the analysis of de novo genetic sequence variants.
Assesses paralogue annotation to help determine pathogenicity of novel variants in inherited arrhythmias.
Measures genetic intolerance information to inform the clinical significance of missense variants.
Supports application of ACMG PS4 criterion comparing variant prevalence in affected individuals and controls.
An evidence-based dataset for inherited cardiac condition gene-disease pairs.
Interactive web application to explore genomic data related to Hypertrophic Cardiomyopathy.
Contributed public genomics tools
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.