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populationgenomics
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talos
Rare Disease variant reanalysis tool
MIT License
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Mt to vcf updates
#430
Closed
MattWellie
closed
2 months ago
MattWellie
commented
2 months ago
Fixes
The VCF-to-MT process wasn't quite there
Neither was the example workflow script
Proposed Changes
Example script creates the output folder prior to starting, and provides all arguments required to
CreateTalosHTML
Entrypoint correction for vcf_to_mt's console command
A few not-required fields removed from the Hail structure audit
VCF-to-MT
Some fields are renamed... the differences in output between VEP's JSON and VCF annotation are frustrating and many
AC/AF/AN/variant_class/geneIds are all slotted into the correct part of the schema
Fixes
Proposed Changes
CreateTalosHTML
VCF-to-MT