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Updated: May 30, 2025

Targeted Next-generation Sequencing and Bioinformatics Pipeline to Evaluate Genetic Determinants of Constitutional Disease
Published on: April 4, 2018
A machine learning decision support tool optimizes WGS utilization in a neonatal intensive care unit
Edwin F Juarez1, Bennet Peterson2, Erica Sanford Kobayashi3,4
1Rady Children's Institute for Genomic Medicine, San Diego, CA, USA. ejuarezrosales@rchsd.org.
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.
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