An algorithm to identify patients aged 0–3 with rare genetic disorders - Webb, Bryn D.; Lau, Lisa Y.; Tsevdos, Despina; Shewcraft, Ryan A.; Corrigan, David; Shi, Lisong; Lee, Seungwoo; Tyler, Jonathan; Li, Shilong; Wang, Zichen; Stolovitzky, Gustavo; Edelmann, Lisa; et al. (Orphanet journal of rare diseases, 2024)
Keywords: Algorithm; Algorithms; Child, Preschool; Children; Clinical decision-making; Digital phenotyping; Electronic Health Records; Female; Genetic Diseases, Inborn - diagnosis; Genetic Diseases, Inborn - genetics; Genetic screening; Health aspects; Human Genetics; Humans; Infant; Infant, Newborn; Male; Medical records; Medicine; Medicine & Public Health; Methods; Pediatric genetic disorders; Pharmacology/Toxicology; Phenotype; Rare Diseases - diagnosis; Rare Diseases - genetics; United States; Digital phenotyping; Pediatric genetic disorders; Algorithm; Clinical decision-making