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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...
Purpose To examine the skeletal muscle and performance responses across two different exercise training modalities which are highly applied in soccer training. Methods Using an RCT design, 39 well-trained male soccer players were randomized into either a speed endurance training (SET; n = 21) or a small-sided game group (SSG; n = 18). Over 4 weeks, thrice weekly, SET performed 6–10 × 30-s all-out runs with 3-min recovery, whil...
The endemic limpet Patella ferruginea is the most endangered invertebrate of the Mediterranean Sea. Our study examined a population of P. ferruginea in the Marine Protected Area of Penisola del Sinis - Isola di Mal di Ventre (western Sardinia, Italy). During the summer 2009, we carried out a systematic census of P. ferruginea along a 8114 m georeferenced perimeter of coast in the no take-no entry zone to assess its density, sp...
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