An algorithm to identify patients aged 0–3 with rare genetic disorders
Webb B, Lau L, Tsevdos D, Shewcraft R, Corrigan D, Shi L, Lee S, Tyler J, Li S, Wang Z, Stolovitzky G, Edelmann L, Chen R, Schadt E, Li L. An algorithm to identify patients aged 0–3 with rare genetic disorders. Orphanet Journal Of Rare Diseases 2024, 19: 183. PMID: 38698482, PMCID: PMC11064409, DOI: 10.1186/s13023-024-03188-9.Peer-Reviewed Original ResearchMeSH KeywordsAlgorithmsChild, PreschoolElectronic Health RecordsFemaleGenetic Diseases, InbornHumansInfantInfant, NewbornMalePhenotypeRare DiseasesConceptsAged 0Electronic medical record dataIncreased riskMedical record dataMedical diagnosis codesChart reviewElectronic medical recordsChildren aged 0Diagnostic genetic testingGenetic disordersAlerting providersPatients aged 0Medical geneticistsPhenotyping algorithmsDiagnosis codesRecord dataGenetic testingMedical recordsLive birthsDisorder diagnosisRare genetic disordersIncompleteness of recordsMendelian disordersClinical symptomsExpert opinion