Genetic mutations are critical factors leading to congenital surgical diseases and can be
identified through genomic analysis. Early and accurate identification of genetic mutations …

Background “Artificial Intelligence”(AI) based systems developed for healthcare continue to
make headlines, with new studies released on a weekly basis [1]. In genetics, a number of AI …

Background Clinical interpretation of genetic variants in the context of the patient's
phenotype is becoming the largest component of cost and time expenditure for genome …

The increase in sequencing capacity, reduction in costs, and national and international
coordinated efforts have led to the widespread introduction of next-generation sequencing …

Mendelian disorders are prevalent in neonatal and pediatric intensive care units and are a
leading cause of morbidity and mortality in these settings. Current diagnostic pipelines that …

Rapid advances in genomic technologies have facilitated the identification pathogenic
variants causing human disease. We report siblings with developmental and epileptic …

Background In the process of finding the causative variant of rare diseases, accurate
assessment and prioritization of genetic variants is essential. Previous variant prioritization …

More than 7,000 rare diseases (RDs) exist worldwide, affecting approximately 350 million
people, out of which only 5% have treatment. The development of novel genome …

Artificial intelligence (AI) is the development of computer systems that are able to perform
tasks that normally require human intelligence. Advances in AI software and hardware …

The ambition of precision medicine is to design and optimize the pathway for diagnosis,
therapeutic intervention, and prognosis by using large multidimensional biological datasets …