As part of the research activities carried out by the working group led by Dr Maria Piane, Cardio-SM (Specifications Matcher) has been developed. This is a free web tool designed to support researchers and clinicians in the standardised interpretation of genetic variants associated with hereditary heart diseases.
The tool, which was developed by Dr Marco Fabiani PhD and Dr Silvia Caroselli MSc, biologists and specialists in medical genetics, is based on the ACMG/AMP international guidelines adapted by the ClinGen Cardio VCEP expert group to hypertrophic cardiomyopathy genes, providing a guided and transparent approach to the application of classification criteria.
Through an intuitive interface, Cardio-SM guides the user step by step through the evaluation of variants, helping to improve the consistency and quality of genetic analyses in the cardiovascular field.
The platform supports the analysis of eight key genes involved in hypertrophic cardiomyopathy: MYH7, MYBPC3, TNNI3, TNNT2, TPM1, ACTC1, MYL2 e MYL3.
Cardio-SM is available free of charge at: www.cardio-sm.org.