Automated prioritization of sick newborns for whole genome sequencing using clinical natural language processing and machine learning.

Journal: Genome medicine
Published Date: Mar 16, 2023

Abstract

BACKGROUND: Rapidly and efficiently identifying critically ill infants for whole genome sequencing (WGS) is a costly and challenging task currently performed by scarce, highly trained experts and is a major bottleneck for application of WGS in the NICU. There is a dire need for automated means to prioritize patients for WGS.

Authors

  • Bennet Peterson
    Department of Biomedical Informatics, University of Utah, Salt Lake City, UT, USA.
  • Edgar Javier Hernandez
    Department of Human Genetics, Utah Center for Genetic Discovery, University of Utah, Salt Lake City, UT, USA.
  • Charlotte Hobbs
    Rady Children's Institute for Genomic Medicine, San Diego, CA, USA.
  • Sabrina Malone Jenkins
    Division of Neonatology, Department of Pediatrics, University of Utah School of Medicine, Salt Lake City, UT, USA.
  • Barry Moore
    Department of Human Genetics, Utah Center for Genetic Discovery, University of Utah, Salt Lake City, UT, USA.
  • Edwin Rosales
    Rady Children's Institute for Genomic Medicine, San Diego, CA, USA.
  • Samuel Zoucha
    Division of Neonatology, Department of Pediatrics, University of Utah School of Medicine, Salt Lake City, UT, USA.
  • Erica Sanford
    Rady Children's Institute for Genomic Medicine, San Diego, CA, USA.
  • Matthew N Bainbridge
    Rady Children's Institute for Genomic Medicine, San Diego, CA, USA.
  • Erwin Frise
    Fabric Genomics Inc., Oakland, CA, USA.
  • Albert Oriol
    Rady Children's Hospital, San Diego, CA, USA.
  • Luca Brunelli
    Division of Neonatology, Department of Pediatrics, University of Utah School of Medicine, Salt Lake City, UT, USA.
  • Stephen F Kingsmore
    Rady Children's Institute for Genomic Medicine, San Diego, CA, USA.
  • Mark Yandell
    Eccles Institute of Human Genetics (M.Y.), University of Utah, Salt Lake City.

Keywords

External Resources

Popular Topics
Recent Journals