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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.