ClinVar Database


clinvar

Student Project done by:

  • Hau Sarah S R
  • Hui Wing Yan
  • Tsang Wui Kan
  • Cody Au Yeung Hoi Ying

Their slides can be downloaded here

ClinVar is a freely accessible, public archive of reports of the relationships among human variations and phenotypes, with supporting evidence.

  • Provides reports of the relationship among human variations and phenotypes, with supporting evidence
  • Submission driven
  • Submission of data can be from: 1. Clinical and research laboratories. 2. Locus specific databases. 3. Authors of publications

clinvar Official Website

Functionalities of ClinVar

Facilitates access to and communication about the relationships asserted between human variation + observed health status.

  1. An archive:
    Provides accessioned and versioned reports → Relationships among human variation + human phenotypes with attribution to sources and publications.

  2. A reporter:
    Submitted interpretations; Review status of a report of clinical significance; Evidence of genotype/phenotype relationship; Standard terminology and usage.

  3. An aggregator:
    Reports related information from Gene, RefSeq, dbSNP and phenotype databases etc.

  4. A data service:
    Provides interactive and programmatic access to current + previous records.

Examples of application of ClinVar

  1. Location search:
    Search a DNA or protein location → For what is known about the clinical significance of a sequence variation.

  2. Review evidence about a variation:
    Look for evidence for/against a phenotype that associate with an allele → Allow determination/recalculation of variant’s pathogenicity.

  3. Integration into testers’ workflow:
    Clinical laboratories integrate information from ClinVar into their workflow → Use the information to identify clinical significance of already documented variants.


How to use could be found here or the student project

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