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Curr Protoc Hum Genet. 2016 Apr 1;89:8.16.1-8.16.23. doi: 10.1002/0471142905.hg0816s89.

Using ClinVar as a Resource to Support Variant Interpretation.

Author information

1
Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine, Cambridge, Massachusetts.
2
Harvard Medical School, Boston, Massachusetts.
3
Geisinger Health System, Danville, Pennsylvania.
4
National Center for Biotechnology Information, National Library of Medicine, National Institutes of Health, Rockville, Maryland.
5
National Human Genome Research Institute, National Institutes of Health, Rockville, Maryland.
6
These authors contributed equally to this work.

Abstract

ClinVar is a freely accessible, public archive of reports of the relationships among genomic variants and phenotypes. To facilitate evaluation of the clinical significance of each variant, ClinVar aggregates submissions of the same variant, displays supporting data from each submission, and determines if the submitted clinical interpretations are conflicting or concordant. The unit describes how to (1) identify sequence and structural variants of interest in ClinVar by multiple searching approaches, including Variation Viewer and (2) understand the display of submissions to ClinVar and the evidence supporting each interpretation. By following this protocol, ClinVar users will be able to learn how to incorporate the wealth of resources and knowledge in ClinVar into variant curation and interpretation.

KEYWORDS:

ClinVar; clinical genetics; data sharing; databases; variant interpretation

PMID:
27037489
PMCID:
PMC4832236
DOI:
10.1002/0471142905.hg0816s89
[Indexed for MEDLINE]
Free PMC Article

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