Evidence map›Paper›PMID 24358873›Full record

ArticleF1000Research2013

Construction and accessibility of a cross-species phenotype ontology along with gene annotations for biomedical research.

Sebastian Köhler, Sandra C Doelken, Barbara J Ruef, Sebastian Bauer, Nicole Washington, Monte Westerfield, George Gkoutos, Paul Schofield, Damian Smedley, Suzanna E Lewis and 2 more

Abstract read
In one paragraph

Article in F1000Research, 2013. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 56 papers.

0numbers the graph read from it
0cells of the map it votes in
56citing papers in PubMed
–field-weighted citation impact
1 · What the graph read from it

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.

2 · The registry

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.

3 · Its place in the literature

Who cites it

56 citing papers in PubMed.

  1. Article
  2. Article
  3. Prenatal phenotyping: A community effort to enhance the Human Phenotype Ontology.American journal of medical genetics. Part C, Seminars in medical genetics · 2022
    Article
  4. Article
  5. Article
  6. Review
  7. Article
  8. Review
  9. Semantic characterization of adverse outcome pathways.Aquatic toxicology (Amsterdam, Netherlands) · 2020
    Article
  10. Article
  11. Article
  12. Xrare: a machine learning method jointly modeling phenotypes and genetic evidence for rare disease diagnosis.Genetics in medicine : official journal of the American College of Medical Genetics · 2019
    Article
  13. Article
  14. Article
  15. Article
  16. Article
  17. Representing glycophenotypes: semantic unification of glycobiology resources for disease discovery.Database : the journal of biological databases and curation · 2019
    Review
  18. Ontology based text mining of gene-phenotype associations: application to candidate gene prediction.Database : the journal of biological databases and curation · 2019
    Article
  19. Review
  20. Article
4 · The record

Corrections and comments

PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.

5 · Who and what money

Authors and funding

12 authors.

Sebastian KöhlerInstitute for Medical and Human Genetics, Charité-Universitatsmedizin Berlin, Berlin, 13353, Germany ; Berlin-Brandenberg Center for Regenerative Therapies (BCRT), Charité-Universitatsmedizin Berlin, Berlin, 13353, Germany.
Sandra C DoelkenInstitute for Medical and Human Genetics, Charité-Universitatsmedizin Berlin, Berlin, 13353, Germany.
Barbara J RuefZFIN, Institute of Neuroscience, University of Oregon, Eugene OR, 97403-5291, USA.
Sebastian BauerInstitute for Medical and Human Genetics, Charité-Universitatsmedizin Berlin, Berlin, 13353, Germany.
Nicole WashingtonLawrence Berkeley National Laboratory, Berkeley CA, 94720, USA.
Monte WesterfieldZFIN, Institute of Neuroscience, University of Oregon, Eugene OR, 97403-5291, USA.
George GkoutosDepartment of Computer Science, University of Aberystwyth, Aberystwyth, SY23 2AX, UK.
Paul SchofieldDepartment of Genetics, University of Cambridge, Cambridge, CB2 3EH, UK.
Damian SmedleyWellcome Trust Sanger Institute, Wellcome Trust Genome Campus, Cambridge, CB10 1SA, UK.
Suzanna E LewisLawrence Berkeley National Laboratory, Berkeley CA, 94720, USA.
Peter N RobinsonInstitute for Medical and Human Genetics, Charité-Universitatsmedizin Berlin, Berlin, 13353, Germany ; Berlin-Brandenberg Center for Regenerative Therapies (BCRT), Charité-Universitatsmedizin Berlin, Berlin, 13353, Germany ; Max Planck Institute for Molecular Genetics, Berlin, 14195, Germany.
Christopher J MungallLawrence Berkeley National Laboratory, Berkeley CA, 94720, USA.

Funding

SOFTWARE AND DATABASE SYSTEM DEVELOPMENTP41HG000330 · NHGRI · JACKSON LABORATORY · PI EPPIG, JANAN T. · 1995 to 2010
$72.1M
ZFIN: The Zebrafish Model Organism DatabaseU41HG002659 · NHGRI · UNIVERSITY OF OREGON · PI HOWE, DOUGLAS GORDON · 2011 to 2020
$30.7M
The 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
$16.0M
An Ontology of Qualities for the Annotation of Biomedical DataR01HG004838 · NHGRI · UNIVERSITY OF CALIF-LAWRENC BERKELEY LAB · PI LEWIS, SUZANNA E · 2009 to 2012
$1.9M
NHGRI NIH HHS P41 HG000330NHGRI NIH HHS R01 HG004838NHGRI NIH HHS U41 HG002659NIH HHS R24 OD011883
6 · The paper itself

Abstract

Phenotype analyses, e.g. investigating metabolic processes, tissue formation, or organism behavior, are an important element of most biological and medical research activities. Biomedical researchers are making increased use of ontological standards and methods to capture the results of such analyses, with one focus being the comparison and analysis of phenotype information between species. We have generated a cross-species phenotype ontology for human, mouse and zebrafish that contains classes from the Human Phenotype Ontology, Mammalian Phenotype Ontology, and generated classes for zebrafish phenotypes. We also provide up-to-date annotation data connecting human genes to phenotype classes from the generated ontology. We have included the data generation pipeline into our continuous integration system ensuring stable and up-to-date releases. This article describes the data generation process and is intended to help interested researchers access both the phenotype annotation data and the associated cross-species phenotype ontology. The resource described here can be used in sophisticated semantic similarity and gene set enrichment analyses for phenotype data across species. The stable releases of this resource can be obtained from http://purl.obolibrary.org/obo/hp/uberpheno/.

Identifiers

PMID24358873
PMCPMC3799545

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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 OpenQuestion graph.