Variant pathogenicity assessment in the diagnosis of genetic diseases is a complex process. A standard method for germline variant interpretation has been proposed by the American College of Medical Genetics and Genomics (ACMG) with the Association for Molecular Pathology (AMP) (PMID 25741868). Implementation of such guidelines in clinical routine requires the development of automated systems able to support medical geneticists dealing with variant interpretation complexity and reproducibility. At enGenome, in collaboration with the BMS laboratory at University of Pavia we have developed and benchmarked the Expert Variant Interpreter software (eVAI) with this goal in mind.

Ivan Limongelli. PhD in Bioengineering and Bioinformatics at University of Pavia. Expert in bioinformatics and big data analytics applied to sequencing technologies, he is co-founder and Chief technology officer at enGenome srl.

"enGenome srl" is a bioinformatic company founded in 2016 in Italy. Accredited as University of Pavia spin-off, its mission is to provide software technology for the interpretation of molecular data in clinical and research settings with the goal to support physicians and medical geneticist in improving diagnosis and in choosing optimal therapeutic strategies for their patients.