A machine learning decision support tool optimizes WGS utilization in a neonatal intensive care unit.
retrospective_cohort · Level III
Where this comes from
- Record sourced from PubMed, PMID 39885315.
- Also identified by DOI 10.1038/s41746-025-01458-9 and PMC identifier 11782664.
- Licence recorded as CC BY-NC-ND.
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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.