AMELIE speeds Mendelian diagnosis by matching patient phenotype and genotype to primary literature

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Science Translational Medicine  20 May 2020:
Vol. 12, Issue 544, eaau9113
DOI: 10.1126/scitranslmed.aau9113

Article Information

vol. 12 no. 544

Print ISSN: 
Online ISSN: 
  • Received for publication July 30, 2018
  • Resubmitted August 14, 2019
  • Accepted for publication April 22, 2020
  • .

Author Information

  1. Johannes Birgmeier1,
  2. Maximilian Haeussler2,
  3. Cole A. Deisseroth1,
  4. Ethan H. Steinberg1,
  5. Karthik A. Jagadeesh1,
  6. Alexander J. Ratner1,
  7. Harendra Guturu3,
  8. Aaron M. Wenger3,
  9. Mark E. Diekhans2,
  10. Peter D. Stenson4,
  11. David N. Cooper4,
  12. Christopher Ré1,
  13. Alan H. Beggs5,
  14. Jonathan A. Bernstein3 and
  15. Gill Bejerano1,3,6,7,*
  1. 1Department of Computer Science, Stanford University, Stanford, CA 94305, USA.
  2. 2Santa Cruz Genomics Institute, MS CBSE, University of California Santa Cruz, Santa Cruz, CA 95064, USA.
  3. 3Department of Pediatrics, Stanford School of Medicine, Stanford, CA 94305, USA.
  4. 4Institute of Medical Genetics, School of Medicine, Cardiff University, Heath Park, Cardiff, UK.
  5. 5Manton Center for Orphan Disease Research, Division of Genetics and Genomics, Boston Children’s Hospital, Harvard Medical School, Boston, MA 02115, USA.
  6. 6Department of Developmental Biology, Stanford University, Stanford, CA 94305, USA.
  7. 7Department of Biomedical Data Science, Stanford University, Stanford, CA 94305, USA.
  1. *Corresponding author. Email: bejerano{at}


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