Details
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Type: New Feature
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Status: In Progress
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Priority: Major
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Resolution: Unresolved
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Affects Version/s: None
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Fix Version/s: None
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Component/s: feature retrieval service
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Labels:None
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Epic Link:
Description
NCBI Clinvar's web api provides the most up to date route for obtaining biomedically relevant mutation data, and often other sources lag behind (including ClinVar's own ftp site which provides VCF, etc).
Full variant details for specific entries are available by eUtils:
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/efetch.fcgi?db=clinvar&id=48074&rettype=variation
It also looks like a VCF or TSV dump can be obtained for a gene.
docs here: https://www.ncbi.nlm.nih.gov/clinvar/docs/maintenance_use/
Full variant details for specific entries are available by eUtils:
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/efetch.fcgi?db=clinvar&id=48074&rettype=variation
It also looks like a VCF or TSV dump can be obtained for a gene.
docs here: https://www.ncbi.nlm.nih.gov/clinvar/docs/maintenance_use/
Attachments
Issue Links
- related with
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JAL-3469 Read ClinVar VCF data
- Ready for testing