Identifying disease-causing variants in Rare Disease patients’ genome is a challenging problem. To accomplish this task, we describe a machine learning framework, that we called “Suggested Diagnosis”, whose aim is to prioritize genetic variants in an exome/genome based on the probability of being disease-causing. To do so, our method leverages standard guidelines for germline variant interpretation as defined by the American C...

The Arbus igneous complex (SW Sardinia, Italy) represents a good example of a short time lived post-collisional composite pluton emplaced at shallow crustal level in the external zone of the Variscan chain. The pluton almost consists of granodiorite and leucogranite rock- suites emplaced at 304 ± 1 Ma within a main NW trending thrust separating the metamorphic wedge from the fold and thrust belt foreland. The pluton emplaced i...