Open thefferon opened 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.
The following annotations would be really useful for the non-redundant variants:
I'm sure there are a lot more.