Academic Journal
View in EDS

OGA: an ontological tool of human phenotypes with genetic associations

Bibliographic Details
Title: OGA: an ontological tool of human phenotypes with genetic associations
Authors: Herrera-Galeano, Jesus, Hirschberg, David L., Mokashi, Vishwesh, Solka, Jeffrey
Publication Year: 2013
Collection: Columbia University: Academic Commons
Subject Terms: Phenotype, Gene mapping, Genomes, Bioinformatics, Ontology--Methodology, Genomes--Data processing, Genetics--Data processing, Genetics
Description: Background: The availability of genetic data has increased dramatically in recent years. The greatest value of this data is its potential for personalized medicine. Many new associations are reported every day from Genome Wide Association Studies (GWAS). However, robust, reproducible associations are elusive for some complex diseases. Ontologies present a potential way to distinguish between spurious associations and those with a potential influence on the phenotype. Such an approach would be based on finding associations of the same genetic variant with closely related, but distinct, phenotypes. This approach can be accomplished with a phenotype ontology that also holds genetic association data. Results: Here, we report a structured knowledge application to navigate and to facilitate the discovery of relationships between different phenotypes and their genetic associations. Conclusions: OGA allows users to (1) find the intersecting set of genes for phenotypes of interest, (2) find empirical p values for such observations and (3) OGA outperforms similar applications in number of total concepts and genes mapped.
Document Type: article in journal/newspaper
Language: English
Relation: https://doi.org/10.7916/D8S180Z3
DOI: 10.7916/D8S180Z3
Availability: https://doi.org/10.7916/D8S180Z3
Accession Number: edsbas.91877CE2
Database: BASE
FullText Text:
  Availability: 0
CustomLinks:
  – Url: https://doi.org/10.7916/D8S180Z3#
    Name: EDS - BASE (ns324271)
    Category: fullText
    Text: View record from BASE
Header DbId: edsbas
DbLabel: BASE
An: edsbas.91877CE2
RelevancyScore: 845
AccessLevel: 3
PubType: Academic Journal
PubTypeId: academicJournal
PreciseRelevancyScore: 845.314270019531
IllustrationInfo
Items – Name: Title
  Label: Title
  Group: Ti
  Data: OGA: an ontological tool of human phenotypes with genetic associations
– Name: Author
  Label: Authors
  Group: Au
  Data: <searchLink fieldCode="AR" term="%22Herrera-Galeano%2C+Jesus%22">Herrera-Galeano, Jesus</searchLink><br /><searchLink fieldCode="AR" term="%22Hirschberg%2C+David+L%2E%22">Hirschberg, David L.</searchLink><br /><searchLink fieldCode="AR" term="%22Mokashi%2C+Vishwesh%22">Mokashi, Vishwesh</searchLink><br /><searchLink fieldCode="AR" term="%22Solka%2C+Jeffrey%22">Solka, Jeffrey</searchLink>
– Name: DatePubCY
  Label: Publication Year
  Group: Date
  Data: 2013
– Name: Subset
  Label: Collection
  Group: HoldingsInfo
  Data: Columbia University: Academic Commons
– Name: Subject
  Label: Subject Terms
  Group: Su
  Data: <searchLink fieldCode="DE" term="%22Phenotype%22">Phenotype</searchLink><br /><searchLink fieldCode="DE" term="%22Gene+mapping%22">Gene mapping</searchLink><br /><searchLink fieldCode="DE" term="%22Genomes%22">Genomes</searchLink><br /><searchLink fieldCode="DE" term="%22Bioinformatics%22">Bioinformatics</searchLink><br /><searchLink fieldCode="DE" term="%22Ontology--Methodology%22">Ontology--Methodology</searchLink><br /><searchLink fieldCode="DE" term="%22Genomes--Data+processing%22">Genomes--Data processing</searchLink><br /><searchLink fieldCode="DE" term="%22Genetics--Data+processing%22">Genetics--Data processing</searchLink><br /><searchLink fieldCode="DE" term="%22Genetics%22">Genetics</searchLink>
– Name: Abstract
  Label: Description
  Group: Ab
  Data: Background: The availability of genetic data has increased dramatically in recent years. The greatest value of this data is its potential for personalized medicine. Many new associations are reported every day from Genome Wide Association Studies (GWAS). However, robust, reproducible associations are elusive for some complex diseases. Ontologies present a potential way to distinguish between spurious associations and those with a potential influence on the phenotype. Such an approach would be based on finding associations of the same genetic variant with closely related, but distinct, phenotypes. This approach can be accomplished with a phenotype ontology that also holds genetic association data. Results: Here, we report a structured knowledge application to navigate and to facilitate the discovery of relationships between different phenotypes and their genetic associations. Conclusions: OGA allows users to (1) find the intersecting set of genes for phenotypes of interest, (2) find empirical p values for such observations and (3) OGA outperforms similar applications in number of total concepts and genes mapped.
– Name: TypeDocument
  Label: Document Type
  Group: TypDoc
  Data: article in journal/newspaper
– Name: Language
  Label: Language
  Group: Lang
  Data: English
– Name: NoteTitleSource
  Label: Relation
  Group: SrcInfo
  Data: https://doi.org/10.7916/D8S180Z3
– Name: DOI
  Label: DOI
  Group: ID
  Data: 10.7916/D8S180Z3
– Name: URL
  Label: Availability
  Group: URL
  Data: https://doi.org/10.7916/D8S180Z3
– Name: AN
  Label: Accession Number
  Group: ID
  Data: edsbas.91877CE2
PLink https://search.ebscohost.com/login.aspx?direct=true&site=eds-live&db=edsbas&AN=edsbas.91877CE2
RecordInfo BibRecord:
  BibEntity:
    Identifiers:
      – Type: doi
        Value: 10.7916/D8S180Z3
    Languages:
      – Text: English
    Subjects:
      – SubjectFull: Phenotype
        Type: general
      – SubjectFull: Gene mapping
        Type: general
      – SubjectFull: Genomes
        Type: general
      – SubjectFull: Bioinformatics
        Type: general
      – SubjectFull: Ontology--Methodology
        Type: general
      – SubjectFull: Genomes--Data processing
        Type: general
      – SubjectFull: Genetics--Data processing
        Type: general
      – SubjectFull: Genetics
        Type: general
    Titles:
      – TitleFull: OGA: an ontological tool of human phenotypes with genetic associations
        Type: main
  BibRelationships:
    HasContributorRelationships:
      – PersonEntity:
          Name:
            NameFull: Herrera-Galeano, Jesus
      – PersonEntity:
          Name:
            NameFull: Hirschberg, David L.
      – PersonEntity:
          Name:
            NameFull: Mokashi, Vishwesh
      – PersonEntity:
          Name:
            NameFull: Solka, Jeffrey
    IsPartOfRelationships:
      – BibEntity:
          Dates:
            – D: 01
              M: 01
              Type: published
              Y: 2013
          Identifiers:
            – Type: issn-locals
              Value: edsbas
            – Type: issn-locals
              Value: edsbas.oa
ResultId 1