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Improve Paralogues plugin #681
Improve Paralogues plugin #681
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Thanks Nuno - those few fixes seem to be working.
Just a quick comment before merging - it's good practise to not leave big chunks of commented code in stuff we're merging to the repos. Can you remove (and keep locally if you think it might be code you want to use later), thanks!
Thanks for the review, @jamie-m-a! I removed the commented code now. |
ENSVAR-2596
Requires Ensembl/ensembl-variation#1069
Changelog
vcf
option is defined)remote
mode usingparalogues=remote
instead of a separate argumentmode=remote
regions
option allows to get paralogue regions (that are used to look up for paralogue variants)get_data
Matches file
The file with variants mapped to paralogue regions can be created by running VEP with VCF output, a registry pointing to the next release databases (e112 in this case) and Paralogues plugin with the recommended options.
More information: refer to the Paralogues plugin page in Confluence.
Testing
Example of variants to test with this plugin:
--offline
or--cache
mode (without using a custom VCF)paralogues=remote
works as expectedmatches
option works with ClinVar file (location to file in ENSVAR-2596)regions=0
andregions=1