Literature DB >> 12463792

Representation of roles in biomedical ontologies: a case study in functional genomics.

Anita Burgun1, Olivier Bodenreider, Franck Le Duff, Fouzia Moussouni, Olivier Loreal.   

Abstract

OBJECTIVE: Representing roles, i.e. functions of proteins, sequences and structures, is the cornerstone of knowledge representation in functional genomics. The objective of this study is to investigate representation of roles as functional categories or associative relations. We focus on GeneOntology (GO) and the UMLS and take examples from iron metabolism.
METHODS: The terms corresponding to the main proteins involved in iron metabolism were mapped to GO (including the annotations) and the UMLS. The representation of their biological roles was then analyzed.
RESULTS: Functional aspects are represented in both GO and the UMLS. However, the granularity may not be appropriate. DISCUSSION: Advantages and limits of functional categories and associative relations are discussed.

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Year:  2002        PMID: 12463792      PMCID: PMC2244301     

Source DB:  PubMed          Journal:  Proc AMIA Symp        ISSN: 1531-605X


  11 in total

1.  Mining molecular binding terminology from biomedical text.

Authors:  T C Rindflesch; L Hunter; A R Aronson
Journal:  Proc AMIA Symp       Date:  1999

2.  Representing genomic knowledge in the UMLS semantic network.

Authors:  H Yu; C Friedman; A Rhzetsky; P Kra
Journal:  Proc AMIA Symp       Date:  1999

3.  Creating the gene ontology resource: design and implementation.

Authors: 
Journal:  Genome Res       Date:  2001-08       Impact factor: 9.043

Review 4.  Hemochromatosis at the intersection of classical medicine and molecular biology.

Authors:  P Brissot
Journal:  C R Acad Sci III       Date:  2001-09

5.  The Unified Medical Language System.

Authors:  D A Lindberg; B L Humphreys; A T McCray
Journal:  Methods Inf Med       Date:  1993-08       Impact factor: 2.176

Review 6.  Iron metabolism in eukaryotes: Mars and Venus at it again.

Authors:  J Kaplan; T V O'Halloran
Journal:  Science       Date:  1996-03-15       Impact factor: 47.728

7.  A study of genes that may modulate the expression of hereditary hemochromatosis: transferrin receptor-1, ferroportin, ceruloplasmin, ferritin light and heavy chains, iron regulatory proteins (IRP)-1 and -2, and hepcidin.

Authors:  P L Lee; T Gelbart; C West; C Halloran; V Felitti; E Beutler
Journal:  Blood Cells Mol Dis       Date:  2001 Sep-Oct       Impact factor: 3.039

8.  A new mouse liver-specific gene, encoding a protein homologous to human antimicrobial peptide hepcidin, is overexpressed during iron overload.

Authors:  C Pigeon; G Ilyin; B Courselaud; P Leroyer; B Turlin; P Brissot; O Loréal
Journal:  J Biol Chem       Date:  2000-12-11       Impact factor: 5.157

9.  Microcytic anaemia mice have a mutation in Nramp2, a candidate iron transporter gene.

Authors:  M D Fleming; C C Trenor; M A Su; D Foernzler; D R Beier; W F Dietrich; N C Andrews
Journal:  Nat Genet       Date:  1997-08       Impact factor: 38.330

10.  Biomedical database inter-connectivity: an experiment linking MIM, GENBANK, and META-1 via MEDLINE.

Authors:  W D Sperzel; R M Abarbanel; S J Nelson; M S Erlbaum; D D Sherertz; M S Tuttle; N E Olson; L F Fuller
Journal:  Proc Annu Symp Comput Appl Med Care       Date:  1991
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  1 in total

1.  Terminological mapping for high throughput comparative biology of phenotypes.

Authors:  Y A Lussier; J Li
Journal:  Pac Symp Biocomput       Date:  2004
  1 in total

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