I. Limongelli results 1
· Newest (Page 1/1, per page 25)
Author: I. Limongelli ×Clear All Filters
Search Results
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...
Previous1Next