A machine learning decision support tool optimizes WGS utilization in a neonatal intensive care unit.

ABSTRACT: The Mendelian Phenotype Search Engine (MPSE), a clinical decision support tool using Natural Language Processing and Machine Learning, helped neonatologists expedite decisions to whole genome sequencing (WGS) to diagnose patients in the neonatal intensive care unit. After the MPSE was introduced, utilization of WGS increased, time to ordering WGS decreased, and WGS diagnostic yield increased.

SUBMITTER: Juarez EF 

PROVIDER: S-EPMC11782664 | biostudies-literature | 2025 Jan

REPOSITORIES: biostudies-literature