An AI-based approach driven by genotypes and phenotypes to uplift the diagnostic yield of genetic diseases
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DOI: 10.1007/s00439-023-02638-x
Abstract: 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… read more here.
Keywords: yield; based approach; approach driven; diagnostic yield ... See more keywords