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Requested annotations for non-redundant variant data #6

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thefferon opened this issue Apr 9, 2018 · 1 comment

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thefferon commented Apr 9, 2018

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

overlap with genes
repeat regions and segmental duplication regions
overlap with known dosage sensitive genes
overlap with known clinical variants, e.g., from ClinVar

I'm sure there are a lot more.

Collaborator

JohnG-001 commented Jul 17, 2018 •

edited

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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.

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