Plain-language medical vocabulary for precision diagnosis
Nat Genet
.
2018 Apr;50(4):474-476.
doi: 10.1038/s41588-018-0096-x.
Authors
Nicole A Vasilevsky
1
2
,
Erin D Foster
3
,
Mark E Engelstad
4
,
Leigh Carmody
5
,
Matt Might
6
,
Chip Chambers
7
,
Hugh J S Dawkins
8
,
Janine Lewis
9
,
Maria G Della Rocca
9
,
Michelle Snyder
9
,
Cornelius F Boerkoel
10
,
Ana Rath
11
,
Sharon F Terry
12
,
Alastair Kent
13
,
Beverly Searle
14
,
Gareth Baynam
15
,
Erik Jones
16
,
Pam Gavin
17
,
Michael Bamshad
18
,
Jessica Chong
18
,
Tudor Groza
19
,
David Adams
20
,
Adam C Resnick
21
,
Allison P Heath
21
,
Chris Mungall
22
,
Ingrid A Holm
23
,
Kayli Rageth
10
,
Catherine A Brownstein
23
,
Kent Shefchek
1
,
Julie A McMurry
1
,
Peter N Robinson
5
,
Sebastian Köhler
24
,
Melissa A Haendel
25
26
27
Affiliations
1
Oregon Clinical & Translational Research Institute, Oregon Health & Science University, Portland, OR, USA.
2
Department of Medical Informatics and Clinical Epidemiology, Oregon Health & Science University, Portland, OR, USA.
3
School of Dentistry, Oregon Health & Science University, Portland, OR, USA.
4
School of Medicine, Indiana University School of Medicine, Indianapolis, IN, USA.
5
Jackson Laboratory for Genomic Medicine, Farmington, CT, USA.
6
Undiagnosed Disease Network, Boston, MA, USA.
7
School of Medicine, Vanderbilt University, Nashville, TN, USA.
8
Department of Health, Government of Western Australia, Perth, Western Australia, Australia.
9
National Center for Advancing Translational Sciences, Genetic and Rare Diseases Information Center, Bethesda, MD, USA.
10
Sanford Health Imagenetics, Sioux Falls, SD, USA.
11
Orphanet, Paris, France.
12
Genetic Alliance, Washington, DC, USA.
13
Genetic Alliance UK, London, UK.
14
Unique, Oxted, UK.
15
Medical School, University of Western Australia, Perth, Western Australia, Australia.
16
Inspire, Arlington, VA, USA.
17
National Organization for Rare Disorders, Quincy, MA, USA.
18
Department of Pediatrics, University of Washington, Seattle, WA, USA.
19
Kinghorn Centre for Clinical Genomics, Garvan Institute, Sydney, New South Wales, Australia.
20
Undiagnosed Disease Program, Bethesda, MD, USA.
21
Center for Data-Driven Discovery in Biomedicine, Children's Hospital of Philadelphia, Philadelphia, PA, USA.
22
Lawrence Berkeley National Laboratory, Berkeley, CA, USA.
23
Division of Genetics and Genomics, Boston Children's Hospital, Harvard Medical School, Boston, MA, USA.
24
NeuroCure Cluster of Excellence, Charité-Universitätsmedizin Berlin, Berlin, Germany.
25
Oregon Clinical & Translational Research Institute, Oregon Health & Science University, Portland, OR, USA. haendel@ohsu.edu.
26
Department of Medical Informatics and Clinical Epidemiology, Oregon Health & Science University, Portland, OR, USA. haendel@ohsu.edu.
27
Linus Pauling Institute, Oregon State University, Corvallis, OR, USA. haendel@ohsu.edu.
PMID:
29632381
PMCID:
PMC6258202
DOI:
10.1038/s41588-018-0096-x
No abstract available
Publication types
Letter
Research Support, Non-U.S. Gov't
MeSH terms
Biological Ontologies
Diagnostic Self Evaluation
Humans
Language*
Patient Participation
Phenotype
Precision Medicine*
Vocabulary*
Grants and funding
R24 OD011883/OD/NIH HHS/United States
UL1 RR033184/RR/NCRR NIH HHS/United States
UL1 TR002014/TR/NCATS NIH HHS/United States
UM1 HG006493/HG/NHGRI NIH HHS/United States