Resources

Below are a collection of genomics tools the group have developed.
All tools are freely available through ours group's web resource portal www.cardiodb.org

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

Assessing gene and variant pathogenicity in cardiomyopathies (HCM, DCM & ARVC) by comparing large clinical cohorts with ExAC population data. Genetics in Medicine 2017

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. Genetics in Medicine 2017

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

An integrated toolset for the analysis of de novo (sporadic) genetic sequence variants. Current Protocols in Human Genetics 2015  

Determine the pathogenicity of novel variants found in patients with inherited arrhythmias by assessing paralogue annotation. Human Mutation 2012. Journal of Medical Genetics 2014.

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 utilizes information from evolutionarily related proteins, specifically paralogues, to help inform the clinical significance of missense variants associated with human diseases.

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

Homologous Missense Constraint measures genetic intolerance information to help inform the clinical significance of missense variants associated with human diseases. medRxiv

Below are a collection of genomics tools the group have contributed to

Gene2Phenotype - G2P is a publicly-accessible online system designed to facilitate the development, validation, curation and distribution of large-scale, evidence-based datasets for use in diagnostic variant filtering.

The Genome Aggregation Database (gnomAD) is a resource developed by an international coalition of investigators, with the goal of aggregating and harmonizing both exome and genome sequencing data from a wide variety of large-scale sequencing projects, and making summary data available for the wider scientific community.

DECIPHER - mapping the clinical genome

GenCC, the Gene Curation Coalition - a global effort to harmonise gene-level resources.