Cardiovascular Genomics and Precision Medicine Group

Major Resources and Applications

Below are the major resources and applications based on our published research studies that are publicly accessible.

	Cardioclassifier Cardio Classifier uses the American College of Medical Genenics and Genomics (ACMG) rules for variant interpretation to classify variants associated with inherited cardiac conditions. - Genetics in Medicine 2018		Allele Frequency App This web app providess a suite of tools to support the use of allele frequency information for the assessment of rare genetic variants in Mendelian disease. - AlleleFrequencyApp - Genetics in Medicine 2017
	Atlas of Cardiac Genetic Variation Assessing gene and variant pathogenicity in cardiomyopathies (HCM, DCM & ARVC) by comparing large clinical cohorts with ExAC population data. - Genetics in Medicine 2016		Titin Variants in DCM Microsite describing the full transcript and exon structure of titin (TTN) and the truncating variants in this gene which are associated with Dilated Cardiomyopathy. - Science Translational Medicine 2015
	CardioBoost CardioBoost uses an adaptive boosting machine learning algorithm to discriminate benign and pathogenic variants in genes associated with inherited cardiac conditions. - Genetics in Medicine 2020		Paralogue Annotation App Paralogue Annotation App utilizes information from evolutionarily related proteins, specifically paralogues, to help inform the clinical significance of missense variants associated with human diseases.
	denovolyzeR An integrated toolset for the analysis of de novo (sporadic) genetic sequence variants. - Current Protocols in Human Genetics 2015		CVGenetics Visit Cardiovascular Genetics and Genomics Research Group (CGGR) website to find out more about our interesting research projects and meet group members.
	APPRAISE APPRAISE is a Bayesian logistic regression model that integrates multiple lines of evidence to evaluate the probability that a rare variant is the cause of Long QT syndrome. - Genome Medicine 2015		Paralogue Annotation Determine the pathogenicity of novel variants found in patients with inherited arrhythmias by assessing paralogue annotation. - Human Mutation 2012 - Journal of Medical Genetics 2014
	Homologous Missense Constraint Homologous Missense Constraint measures genetic intolerance information to help inform the clinical significance of missense variants associated with human diseases. - medRxiv		PS4 Calculator A tool to support the application of the American College of Medical Genetics and Genomics (ACMG) PS4 criterion, which relates to the prevalence of a variant in affected individuals compared to controls.