Tools & Databases

Below are a collection of genomics tools the group have developed. 

Cardio Classifier uses the American College of Medical Genenics and Genomics (ACMG) rules for variant interpretation to classify variants associated with inherited cardiac conditions.
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. BioRxiv preprint

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 2012Journal of Medical Genetics 2014.

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