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Description
Is your feature request related to a problem? Please describe.
It would be useful to import Talos tags (formerly AIP) into additional projects in seqr. This includes the GREGoR_multisite_WGS project, and a project currently underway with BCH (which would involve making the changes available externally so they could incorporate them into their seqr instance).
Describe the solution you'd like
The current AIP import process to be extended, and updated with a few changes:
- Change name from AIP to Talos
- Allow for changes to the categories header, since Talos users can rename or add new categories. Or, update to latest list of categories (below).
"categories": {
"1": "ClinVar Pathogenic",
"3": "High Impact Variant",
"4": "de Novo",
"5": "High SpliceAI Score",
"6": "AlphaMissense P/LP",
"pm5": "ACMG PM5 - missense in same residue as known pathogenic",
"svdb": "SpliceVarDB Predicted Splice-Altering",
"sv1": "Predicted LOF SV",
"exomiser": "Variant prioritised by Exomiser"
}
Describe alternatives you've considered
Our current process involves generating an html, json or excel spreadsheet to view Talos output
Additional context
This request concerns changes to this interface: https://seqr.broadinstitute.org/summary_data/external_analysis