ByteMed#4: Diagnosing Mendelian disorders and Leukemia subtype with AI, reducing mortality with AI ECG interpretation
AI-MARRVEL — A Knowledge-Driven AI System for Diagnosing Mendelian Disorders BACKGROUND Diagnosing genetic disorders requires extensive manual curation and interpretation of candidate variants, a labor-intensive task even for trained geneticists. Although artificial intelligence (AI) shows promise in aiding these diagnoses, existing AI tools have only achieved moderate success for primary diagnosis.