An algorithm to identify patients aged 0-3 with rare genetic disorders.

Susanna BalcellsLisa Y LauDespina TsevdosRyan A ShewcraftDavid CorriganLisong ShiSeungwoo LeeJonathan TylerShilong LiZichen WangGustavo StolovitzkyLisa EdelmannRong ChenEric E SchadtLi Li

Published in: Orphanet journal of rare diseases (2024)

The PheIndex algorithm can help identify when a rare genetic disorder may be present, alerting providers to consider ordering a diagnostic genetic test and/or referring a patient to a medical geneticist.

Keyphrases

end stage renal disease
genome wide
machine learning
ejection fraction
copy number
newly diagnosed
chronic kidney disease
healthcare
prognostic factors
peritoneal dialysis
case report
neural network
patient reported