Suggested Diagnosis: where machine-learning meets variant prioritization
18 November 2022

NOVEMBER 25 2022 | 3pm CET | 9am EST

Breaking down the limits of traditional variant interpretation, enGenome’s award winning Suggested Diagnosis feature applies a layer of machine-learning driven by pathogenicity of variants, phenotypic similarity and inheritance fit to deliver a best-in-class and highly accurate hypothesis-driven variant prioritization.

Join us as Dr. Berardo Rinaldi - geneticist at Policlinico of Milan - discusses  a validation study done with our feature on 44 Prenatal WES and how machine-learning technology was leveraged to prioritize causative variants according to clinical significance. 



About Fondazione IRCCS Cà Granda Ospedale Maggiore Policlinico

The Policlinico is a reference within national and international networks of research and treatment, specially for pregnancies and treatment of women’s pathologies that are handled at its Mangiagalli Clinic, which has the most active obstetrics gynaecology first aid in Lombardy.

The Policlinico further stands out for being the regional centre of reference for the treatment of rare diseases where experts are able to follow over 300 pathologies.