Cardiovascular Genomics and Precision Medicine Group

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

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

Assessing gene and variant pathogenicity in cardiomyopathies (HCM, DCM & ARVC) by comparing large clinical cohorts with ExAC population data.
- Genetics in Medicine 2016

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 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.

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

Visit Cardiovascular Genetics and Genomics Research Group (CGGR) website to find out more about our interesting research projects and meet group members.

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

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

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.

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 (DatabasE of genomiC varIation and Phenotype in Humans using Ensembl Resources) is an interactive web-based database which incorporates a suite of tools designed to aid the interpretation of genomic variants.

The Gene Curation Coalition brings together groups engaged in the evaluation of gene-disease validity with a willingness to share data publicly, to develop consistent terminology for gene curation activities and to facilitate the consistent assessment of genes that have been reported in association with disease.