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<p>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.</p>

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

  • 期刊论文

  • 出版模式：

    开放获取

  • 发表日期：

    2025年1月30日

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

摘要

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.