A scalable approach for genomic-first rare disorder detection in a healthcare-based population. Torene RI, Murphy KM, Brandt T, Kelly MA, et al. Am J Hum Genet 2025;112:2565-2577.

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Amedeo Smart

Independent Medical Education

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Torene RI, Murphy KM, Brandt T, Kelly MA, et al. A scalable approach for genomic-first rare disorder detection in a healthcare-based population. Am J Hum Genet 2025;112:2565-2577.
PMID: 41056947