ClinVar XML
- Dominant language
- Python
- Stars
- 30
- Forks
- 3
- Avg merge
- 9h 28m
- Merged PRs (30d)
- 42
Description
We currently load ClinVar from separate GRCh37/38 VCFs
We should switch to the XML as it contains more variants and more info.
For analysis performance reasons we probably need it to continue to go into its own partition per build, and have a 1-to-1 to Variant model that summarises things
**lab specific classifications**
You can get stars but at the moment you can't see which labs submitted (some are more trustworthy than others) - we would like to bring in this info. Maybe it'll go into JSON
**CNVs**
To Find CNVs in ClinVar, easiest way is to search, then refine search by type or size
> ClinVar’s VCF file includes variants that are simple alleles (not a haplotype or genotype) < 10 kb in length with precise endpoints mapped to the GRCh37 or GRCh38 human genome assemblies. Other variants are not in scope, including cytogenetic variants, copy number variants with inner and/or outer start and stop coordinates, and variants >10 kb.
Here is a 1kb one: NC_000013.10:g.32889619_32890666dup that is in VCF
[5kb](https://www.ncbi.nlm.nih.gov/clinvar/variation/1755741/) - NC_000013.11:g.32343971_32349243dup - in VCF after nov 2022 (not in vg.com as that's a bit old)
[16kb](https://www.ncbi.nlm.nih.gov/clinvar/variation/267628/) NC_000013.11:g.32319209_32335388dup not in VCF
[Download latest ClinVar XML](https://ftp.ncbi.nlm.nih.gov/pub/clinvar/xml/ClinVarFullRelease_00-latest.xml.gz)
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