Cardiomyopathy is a leading cause of heart failure in children, and there are currently no effective treatments. Could emerging therapies that successfully target the root cause of the condition in adults also work well in children? That was the question Dr....
Geneterpret
Experts in our Cardiac Genome Clinic have developed a bioinformatics tool that you can use to assess whole genome and whole exome sequencing data, and better identify genetic variants that are causing disease.
“GeneTerpret” is a flexible platform designed to streamline the genome interpretation process, through a unique interface, with improved ease, speed and accuracy. Upload data, filter it using integrated databases, and receive a priority list of the highest-potential disease-causing genes or variants in that particular patient.
GeneTerpret greatly reduces the time and labour often required to comb through databases, clinical histories and available literature in order to analyze a sample. GeneTerpret has the potential to save hours on each case, freeing analysts to spend more time hunting for new disease-related genes.
An open access study describing this tool and its achievements is published in February 2022.