P. Rizzo results 41
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An AI-based approach driven by genotypes and phenotypes to uplift the diagnostic yield of genetic diseasesNARA Subscribed
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...
A molecular tool has been developed for the molecular identification of Ips sexdentatus (Börner 1776) (Coleoptera Curculionidae Scolytidae), the well-known six thooted bark beetle, widely distributed in Eurasia, where it infests several species of the genus Pinus and occasionally a few conifer species of the genera Abies , Larix and Picea . The developed test can be useful both in countries where I. sexdentatus is handled as a...
Remote sensing of the Earth's soil color in space and timeNARA Subscribed
Anatomical and biochemical studies of Spartium junceum infected by Xylella fastidiosa subsp. multiplex ST 87NARA Subscribed
Spartium junceum L. is a typical species of Mediterranean shrubland areas, also grown in gardens and parks as an ornamental. In recent years in Europe, S. junceum has been recurrently found to be infected by different subspecies and genotypes of the quarantine regulated bacterium Xylella fastidiosa (Xf). This work presents for the first time the anatomy of S. junceum plants that we found, by means of genetic and immunochemistr...
Common, low-frequency, rare, and ultra-rare coding variants contribute to COVID-19 severityNARA Subscribed
The combined impact of common and rare exonic variants in COVID-19 host genetics is currently insufficiently understood. Here, common and rare variants from whole-exome sequencing data of about 4000 SARS-CoV-2-positive individuals were used to define an interpretable machine-learning model for predicting COVID-19 severity. First, variants were converted into separate sets of Boolean features, depending on the absence or the pr...
Divergent minute virus of canines strains identified in illegally imported puppies in ItalyNARA Subscribed
Minute virus of canines (MVC) belongs to the family Parvoviridae , genus Bocaparvovirus , and has been mainly described during enteritis episodes in young dogs. This study reports the characterization of four divergent MVC strains detected between 2012 and 2018, three of which were from dogs illegally imported into Italy, most probably from Eastern Europe, that cluster together phylogenetically but share low genetic similarity...