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
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
Determine the pathogenicity of novel variants found in patients with inherited arrhythmias by assessing paralogue annotation. Human Mutation 2012. Journal of Medical Genetics 2014.
Paralogue Annotation App utilizes information from evolutionarily related proteins, specifically paralogues, to help inform the clinical significance of missense variants associated with human diseases.
Below are a collection of genomics tools the group have contributed to