ncbi / dbvar

dbVar
https://www.ncbi.nlm.nih.gov/dbvar
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Requested annotations for non-redundant variant data #6

Open thefferon opened 6 years ago

thefferon commented 6 years ago

The following annotations would be really useful for the non-redundant variants:

I'm sure there are a lot more.

JohnG-001 commented 6 years ago

overlap with genes

NR SV data Files are now available showing overlap with ACMG genes. E.g.: GRCh38.nr_deletions.acmg_genes.tsv.gz

overlap with known clinical variants, e.g., from ClinVar

NR SV files now include: clinical_assertion and clinvar_accession fields.

More work in all of the areas mentioned is under consideration.