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
Functionalities of ClinVar
Facilitates access to and communication about the relationships asserted between human variation + observed health status.
An archive:
Provides accessioned and versioned reports → Relationships among human variation + human phenotypes with attribution to sources and publications.A reporter:
Submitted interpretations; Review status of a report of clinical significance; Evidence of genotype/phenotype relationship; Standard terminology and usage.An aggregator:
Reports related information from Gene, RefSeq, dbSNP and phenotype databases etc.A data service:
Provides interactive and programmatic access to current + previous records.
Examples of application of ClinVar
Location search:
Search a DNA or protein location → For what is known about the clinical significance of a sequence variation.Review evidence about a variation:
Look for evidence for/against a phenotype that associate with an allele → Allow determination/recalculation of variant’s pathogenicity.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