Bioinformatics@Becker

Updates and Musings from the Bioinformatics team at Becker Medical Library


NCBI’s ClinVar

November 9th, 2012 by Kristi · No Comments

Interested in integrating data from clinical genetic testing and the literature in a single place? ClinVar aggregates information from a variety of sources about sequence variation and its relationship to human health in a single centralized location.

from Intro to ClinVar:

The goal of ClinVar is to provide a freely accessible, public archive of reports of the relationships among human variations and phenotypes along with supporting evidence. By so doing, ClinVar will facilitate access to and communication about the relationships asserted between human variation and observed health status. ClinVar collects reports of variants found in patient samples, assertions made regarding their clinical significance, information about the submitter, and other supporting data. The alleles described in the submissions are mapped to reference sequences, and reported according to the HGVS standard.  ClinVar then presents the data for individual users, laboratories that want to incorporate it in their daily workflow, and organizations that want to incorporate it into their own applications.

Take a look at ClinVar at NCBI at http://www.ncbi.nlm.nih.gov/clinvar/. NCBI has provides access to helpful information, such as  Nomenclature and a Data Dictionary, ClinVar documents (FTP site), and a ClinVar News and Announcements RSS feed. NCBI also provides links to tools (e.g. Variation Reporter, PubMed Clinical Queries) and related sites (dbGaP, Variation, GeneReviews, and OMIM).

YouTube lecture: NCBI’s ClinVar by Donna Maglott. Delivered at the Characterizing and Displaying Genetic Variants for Clinical Action Workshop, December 1-2, 2011
More: http://www.genome.gov/27546546

Articles of interest:

 

Categories: 2012, clinical, gene, genetic, informatics, NCBI, repository, sequence, variation

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