A Machine Learning Decision Support Tool Optimizes Whole Genome Sequencing Utilization in a Neonatal Intensive Care Unit

Author:

Juarez Edwin F.ORCID,Peterson BennetORCID,Sanford Kobayashi Erica,Gilmer SheldonORCID,Tobin Laura E.,Schultz Brandan,Lenberg Jerica,Carroll Jeanne,Bai-Tong Shiyu,Sweeney Nathaly M.,Beebe Curtis,Stewart Lawrence,Olsen Lauren,Reinke Julie,Kiernan Elizabeth A.,Reimers Rebecca,Wigby Kristen,Tackaberry Chris,Yandell Mark,Hobbs Charlotte,Bainbridge Matthew N.

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.

Publisher

Cold Spring Harbor Laboratory

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