ArticleNature genetics2018
Plain-language medical vocabulary for precision diagnosis.
Abstract readLetter
In one paragraph
Article in Nature genetics, 2018. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 18 papers.
0numbers the graph read from it
0cells of the map it votes in
18citing papers in PubMed
–field-weighted citation impact
What it found
Each row is one number read from the abstract, on the scale the paper reported it, with its interval. Left of the dashed line favours the treatment, right favours the comparator. Under each row is the sentence it came from. New to these charts? A ten-minute tutorial.
The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
The trial behind it
Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.
Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.
Who cites it
18 citing papers in PubMed.
- Development of self-phenotyping tools to empower patients and improve diagnostics.EBioMedicine · 2025Article
- Talking about diseases; developing a model of patient and public-prioritised disease phenotypes.NPJ digital medicine · 2024Article
- Leaving no patient behind! Expert recommendation in the use of innovative technologies for diagnosing rare diseases.Orphanet journal of rare diseases · 2024Review
- The Human Phenotype Ontology in 2024: phenotypes around the world.Nucleic acids research · 2024Article
- The Data Use Ontology to streamline responsible access to human biomedical datasets.Cell genomics · 2021Article
- Underrepresentation of Phenotypic Variability of 16p13.11 Microduplication Syndrome Assessed With an Online Self-Phenotyping Tool (Phenotypr): Cohort Study.Journal of medical Internet research · 2021Article
- Towards more patient friendly clinical notes through language models and ontologies.AMIA ... Annual Symposium proceedings. AMIA Symposium · 2021Article
- The case for open science: rare diseases.JAMIA open · 2020Review
- The Monarch Initiative in 2019: an integrative data and analytic platform connecting phenotypes to genotypes across species.Nucleic acids research · 2020Article
- Encoding Clinical Data with the Human Phenotype Ontology for Computational Differential Diagnostics.Current protocols in human genetics · 2019Article
- Article
- Expansion of the Human Phenotype Ontology (HPO) knowledge base and resources.Nucleic acids research · 2019Article
- The Sickle Cell Disease Ontology: enabling universal sickle cell-based knowledge representation.Database : the journal of biological databases and curation · 2019Article
- Correcting "insertion-deletion mutations" in medical terminology.Journal of cellular and molecular medicine · 2018Article
- Classification, Ontology, and Precision Medicine.The New England journal of medicine · 2018Review
- Meeting Patients' Right to the Correct Diagnosis: Ongoing International Initiatives on Undiagnosed Rare Diseases and Ethical and Social Issues.International journal of environmental research and public health · 2018Review
- [From symptom to syndrome using modern software support].Der Internist · 2018Review
- Delivering Genetic Testing for Patients with Prostate Cancer: Moving Beyond Provider Knowledge as a Barrier to Care.Cancer control : journal of the Moffitt Cancer CenterArticle
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
33 authors.
Nicole A VasilevskyOregon Clinical & Translational Research Institute, Oregon Health & Science University, Portland, OR, USA.ORCID http://orcid.org/0000-0001-5208-3432
Erin D FosterSchool of Dentistry, Oregon Health & Science University, Portland, OR, USA.
Mark E EngelstadSchool of Medicine, Indiana University School of Medicine, Indianapolis, IN, USA.
Leigh CarmodyJackson Laboratory for Genomic Medicine, Farmington, CT, USA.ORCID http://orcid.org/0000-0001-7941-2961
Matt MightUndiagnosed Disease Network, Boston, MA, USA.
Chip ChambersSchool of Medicine, Vanderbilt University, Nashville, TN, USA.
Hugh J S DawkinsDepartment of Health, Government of Western Australia, Perth, Western Australia, Australia.
Janine LewisNational Center for Advancing Translational Sciences, Genetic and Rare Diseases Information Center, Bethesda, MD, USA.
Maria G Della RoccaNational Center for Advancing Translational Sciences, Genetic and Rare Diseases Information Center, Bethesda, MD, USA.
Michelle SnyderNational Center for Advancing Translational Sciences, Genetic and Rare Diseases Information Center, Bethesda, MD, USA.
Cornelius F BoerkoelSanford Health Imagenetics, Sioux Falls, SD, USA.
Ana RathOrphanet, Paris, France.
Sharon F TerryGenetic Alliance, Washington, DC, USA.
Alastair KentGenetic Alliance UK, London, UK.
Beverly SearleUnique, Oxted, UK.
Gareth BaynamMedical School, University of Western Australia, Perth, Western Australia, Australia.ORCID http://orcid.org/0000-0003-4920-9553
Erik JonesInspire, Arlington, VA, USA.
Pam GavinNational Organization for Rare Disorders, Quincy, MA, USA.
Michael BamshadDepartment of Pediatrics, University of Washington, Seattle, WA, USA.
Jessica ChongDepartment of Pediatrics, University of Washington, Seattle, WA, USA.ORCID http://orcid.org/0000-0002-1616-2448
Tudor GrozaKinghorn Centre for Clinical Genomics, Garvan Institute, Sydney, New South Wales, Australia.
David AdamsUndiagnosed Disease Program, Bethesda, MD, USA.ORCID http://orcid.org/0000-0002-6660-1242
Adam C ResnickCenter for Data-Driven Discovery in Biomedicine, Children's Hospital of Philadelphia, Philadelphia, PA, USA.
Allison P HeathCenter for Data-Driven Discovery in Biomedicine, Children's Hospital of Philadelphia, Philadelphia, PA, USA.
Chris MungallLawrence Berkeley National Laboratory, Berkeley, CA, USA.
Ingrid A HolmDivision of Genetics and Genomics, Boston Children's Hospital, Harvard Medical School, Boston, MA, USA.
Kayli RagethSanford Health Imagenetics, Sioux Falls, SD, USA.ORCID http://orcid.org/0000-0002-6387-4317
Catherine A BrownsteinDivision of Genetics and Genomics, Boston Children's Hospital, Harvard Medical School, Boston, MA, USA.
Kent ShefchekOregon Clinical & Translational Research Institute, Oregon Health & Science University, Portland, OR, USA.
Julie A McMurryOregon Clinical & Translational Research Institute, Oregon Health & Science University, Portland, OR, USA.
Peter N RobinsonJackson Laboratory for Genomic Medicine, Farmington, CT, USA.ORCID http://orcid.org/0000-0002-0736-9199
Sebastian KöhlerNeuroCure Cluster of Excellence, Charité-Universitätsmedizin Berlin, Berlin, Germany.ORCID http://orcid.org/0000-0002-5316-1399
Melissa A HaendelOregon Clinical & Translational Research Institute, Oregon Health & Science University, Portland, OR, USA. haendel@ohsu.edu.ORCID http://orcid.org/0000-0001-9114-8737
Funding
Penn State Clinical and Translational Science InstituteUL1TR002014 · NCATS · PENNSYLVANIA STATE UNIV HERSHEY MED CTR · PI KRASCHNEWSKI, JENNIFER L. · 2016 to 2025
$33.7MThe Monarch Initiative: Linking Diseases to Model Organism ResourcesR24OD011883 · OD · UNIV OF NORTH CAROLINA CHAPEL HILL · PI HAENDEL, MELISSA A, MUNGALL, CHRISTOPHER J · 2012 to 2024
$16.0MUW Center for Mendelian GenomicsUM1HG006493 · NHGRI · UNIVERSITY OF WASHINGTON · PI BAMSHAD, MICHAEL JOSEPH, LEAL, SUZANNE M · 2016 to 2020
$15.3MPENN STATE CLINICAL AND TRANSLATIONAL SCIENCE INSTITUTEUL1RR033184 · NCRR · PENNSYLVANIA STATE UNIV HERSHEY MED CTR · PI SINOWAY, LAWRENCE I · 2011 to 2011
$4.5MNCATS NIH HHS UL1 TR002014NCRR NIH HHS UL1 RR033184NHGRI NIH HHS UM1 HG006493NIH HHS R24 OD011883
Abstract
PubMed holds no abstract for this paper.
Indexed as
LanguagePrecision MedicineVocabularyBiological OntologiesDiagnostic Self EvaluationHumansPatient ParticipationPhenotype
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What Socratic holds
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Registered trials
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Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the Socratic graph.