Today's paper is about ClinVar, a widely used database for variant interpretation.
Today I covered "ClinVar: improving access to variant interpretations and supporting evidence." published in 2017, Nucleic Acids Research.
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doi: 10.1093/nar/gkx1153
Pests of mustard_Identification_Management_Dr.UPR.pdf
What is ClinVar? A database for variant interpretation! [Today's paper]
1. Today’s paper
D1062–D1067 Nucleic Acids Research, 2018, Vol. 46, Database issue Published online 20 November 2017
doi: 10.1093/nar/gkx1153
ClinVar: improving access to variant interpretations
and supporting evidence
Melissa J. Landrum*
, Jennifer M. Lee, Mark Benson, Garth R. Brown, Chen Chao,
Shanmuga Chitipiralla, Baoshan Gu, Jennifer Hart, Douglas Hoffman, Wonhee Jang,
Karen Karapetyan, Kenneth Katz, Chunlei Liu, Zenith Maddipatla, Adriana Malheiro,
Kurt McDaniel, Michael Ovetsky, George Riley, George Zhou, J. Bradley Holmes, Brandi
L. Kattman and Donna R. Maglott
National Center for Biotechnology Information, National Library of Medicine, National Institutes of Health, Bethesda,
MD 20894, USA
Received September 26, 2017; Revised October 27, 2017; Editorial Decision October 28, 2017; Accepted November 17, 2017
ABSTRACT
ClinVar (https://www.ncbi.nlm.nih.gov/clinvar/) is a
freely available, public archive of human genetic vari-
ants and interpretations of their significance to dis-
ease, maintained at the National Institutes of Health.
cance of a variant or set of variants are submitted to Clin-
Var by clinical testing laboratories, research laboratories,
locus-specific databases, expert panels and other groups.
Submissions include a description of the variant(s); the con-
dition for which the variant was interpreted; the interpre-
tation of the clinical significance of the variant, with the
Downloadedfromhttps://academic.oup.com
doi: 10.1093/nar/gkx1153
4. Data structure
VCV (Variation in ClinVar)
: variant information
RCV (Reference ClinVar)
: variant-condition information
SCV (Submitted record ClinVar)
: variant-condition-submission information
Accession IDs
9. Searching ClinVar
• Gene symbols
• HGVS expressions
• Protein changes
• rs numbers
• Diseases
• Clinical features/phenotypes
• Submitters
• A location on a chromosome
• The date that the clinical significance
was last evaluated
• HGNC ID or Gene ID
• HPO ID
Filters applicable to variants
• Clinical significance
• Review status
• Allele origin
• Method type
• Molecular consequences
• Variation type
• Variant length
• Variant-gene relationship
11. 1. ClinVar is a publicly available archive for sharing
variant interpretation and supporting evidences.
2. ClinVar aggregates data by variant-disease pairs
and by variants.
3. ClinVar data can be accessed through the website
and downloaded in XML or VCF formats.
4. Submission with detailed phenotypic information
of patients may be included.
5. Search function at the ClinVar website have been
improved.
Summary