Genetic & Genomic MedicinemedRxivPreprint
AMELIE 3: Fully Automated Mendelian Patient Reanalysis at Under 1 Alert per Patient per Year
Johannes A. Birgmeier, Ethan Steinberg, Ethan E. Bodle…·Gill Bejerano
AMELIE 3 automatically reanalyzes undiagnosed Mendelian disease patients using new literature, achieving 80% diagnostic yield with 0.5-1 alerts per patient per year.
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