It is becoming increasingly necessary to develop computerized methods for identifying the few disease-causing variants from hundreds discovered in each individual patient. This problem is especially relevant for Copy Number Variants (CNVs), which can...
Archivio italiano di urologia, andrologia : organo ufficiale [di] Societa italiana di ecografia urologica e nefrologica
26766807
Seminal vesicle cysts (SVCs) associated with other genitourologic abnormalities are rare. Often associated with ipsilateral renal agenesis in a symptomatic patient. In symptomatic patients open surgical excision is the treatment of choice. The laparo...
Computer methods and programs in biomedicine
30119860
BACKGROUND AND OBJECTIVE: Congenital anomalies are seen at 1-3% of the population, probabilities of which are tried to be found out primarily through double, triple and quad tests during pregnancy. Also, ultrasonographical evaluations of fetuses enha...
The Human Phenotype Ontology (HPO)-a standardized vocabulary of phenotypic abnormalities associated with 7000+ diseases-is used by thousands of researchers, clinicians, informaticians and electronic health record systems around the world. Its detaile...
OBJECTIVE: Patients with ASD show complex and highly variable disease. The decision to manage patients operatively is largely subjective and varies based on surgeon training and experience. We sought to develop models capable of accurately discrimina...
OBJECTIVE: Advances in artificial intelligence (AI) have demonstrated potential to improve medical diagnosis. We piloted the end-to-end automation of the mid-trimester screening ultrasound scan using AI-enabled tools.