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Plain-language medical vocabulary for precision diagnosis

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Fig. 1: HPO pipeline.

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Acknowledgements

Funding was provided by the US National Institutes of Health (NIH) Monarch Initiative (OD 5R24OD011883; N.A.V., L.C., T.G., C.M., J.A.M., P.N.R., K.S., S.K., M.A.H.) and Patient-Centered Outcomes Research Institute (PCORI) contract number ME-1511-33184 (N.A.V., I.H., C.B., K.S., J.A.M., M.A.H.).

Author information

Authors and Affiliations

  1. Oregon Clinical & Translational Research Institute, Oregon Health & Science University, Portland, OR, USA

    Nicole A. Vasilevsky, Kent Shefchek, Julie A. McMurry & Melissa A. Haendel

  2. Department of Medical Informatics and Clinical Epidemiology, Oregon Health & Science University, Portland, OR, USA

    Nicole A. Vasilevsky & Melissa A. Haendel

  3. School of Medicine, Indiana University School of Medicine, Indianapolis, IN, USA

    Mark E. Engelstad

  4. School of Dentistry, Oregon Health & Science University, Portland, OR, USA

    Erin D. Foster

  5. Jackson Laboratory for Genomic Medicine, Farmington, CT, USA

    Leigh Carmody & Peter N. Robinson

  6. Undiagnosed Disease Network, Boston, MA, USA

    Matt Might

  7. School of Medicine, Vanderbilt University, Nashville, TN, USA

    Chip Chambers

  8. Department of Health, Government of Western Australia, Perth, Western Australia, Australia

    Hugh J. S. Dawkins

  9. National Center for Advancing Translational Sciences, Genetic and Rare Diseases Information Center, Bethesda, MD, USA

    Janine Lewis, Maria G. Della Rocca & Michelle Snyder

  10. Sanford Health Imagenetics, Sioux Falls, SD, USA

    Cornelius F. Boerkoel & Kayli Rageth

  11. Orphanet, Paris, France

    Ana Rath

  12. Genetic Alliance, Washington, DC, USA

    Sharon F. Terry

  13. Genetic Alliance UK, London, UK

    Alastair Kent

  14. Unique, Oxted, UK

    Beverly Searle

  15. Medical School, University of Western Australia, Perth, Western Australia, Australia

    Gareth Baynam

  16. Inspire, Arlington, VA, USA

    Erik Jones

  17. National Organization for Rare Disorders, Quincy, MA, USA

    Pam Gavin

  18. Department of Pediatrics, University of Washington, Seattle, WA, USA

    Michael Bamshad & Jessica Chong

  19. Kinghorn Centre for Clinical Genomics, Garvan Institute, Sydney, New South Wales, Australia

    Tudor Groza

  20. Undiagnosed Disease Program, Bethesda, MD, USA

    David Adams

  21. Center for Data-Driven Discovery in Biomedicine, Children’s Hospital of Philadelphia, Philadelphia, PA, USA

    Adam C. Resnick & Allison P. Heath

  22. Lawrence Berkeley National Laboratory, Berkeley, CA, USA

    Chris Mungall

  23. Division of Genetics and Genomics, Boston Children’s Hospital, Harvard Medical School, Boston, MA, USA

    Ingrid A. Holm & Catherine A. Brownstein

  24. NeuroCure Cluster of Excellence, Charité–Universitätsmedizin Berlin, Berlin, Germany

    Sebastian Köhler

  25. Linus Pauling Institute, Oregon State University, Corvallis, OR, USA

    Melissa A. Haendel

Authors
  1. Nicole A. Vasilevsky
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  2. Erin D. Foster
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  3. Mark E. Engelstad
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  4. Leigh Carmody
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  5. Matt Might
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  6. Chip Chambers
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  7. Hugh J. S. Dawkins
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  8. Janine Lewis
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  9. Maria G. Della Rocca
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  10. Michelle Snyder
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  11. Cornelius F. Boerkoel
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  12. Ana Rath
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  13. Sharon F. Terry
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  14. Alastair Kent
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  15. Beverly Searle
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  16. Gareth Baynam
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  17. Erik Jones
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  18. Pam Gavin
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  19. Michael Bamshad
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  20. Jessica Chong
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  21. Tudor Groza
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  22. David Adams
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  23. Adam C. Resnick
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  24. Allison P. Heath
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  25. Chris Mungall
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  26. Ingrid A. Holm
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  27. Kayli Rageth
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  28. Catherine A. Brownstein
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  29. Kent Shefchek
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  30. Julie A. McMurry
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  31. Peter N. Robinson
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  32. Sebastian Köhler
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  33. Melissa A. Haendel
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Contributions

M.A.H. conceived the work. N.A.V., E.D.F., M.E.E., L.C., K.R., S.K. and P.N.R. added layperson synonyms to the Human Phenotype Ontology. K.S. and S.K. performed the analysis. J.A.M. designed the figure. N.A.V., E.D.F., M.E.E., L.C., M.M., C.C., H.J.S.D., J.L., M.G.D.R., M.S., C.F.B., A.R., S.F.T., A.K., B.S., G.B., E.J., P.G., M.B., J.C., T.G., D.A., A.C.R., A.P.H., C.M., I.H., K.R., C.B., K.S., J.A.M., P.N.R., S.K. and M.A.H. wrote the manuscript.

Corresponding author

Correspondence to Melissa A. Haendel.

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The authors declare no competing interests.

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Vasilevsky, N.A., Foster, E.D., Engelstad, M.E. et al. Plain-language medical vocabulary for precision diagnosis. Nat Genet 50, 474–476 (2018). https://doi.org/10.1038/s41588-018-0096-x

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