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 (please use clnsig=ignore to get all paralogue variants):
1 939112 . G A
1 44827194 . GT AA
1 8871910 . C T
2 166073606 . G T
17 4833586 . G T
Test fetching variants in VEP cache by using the plugin in --offline or --cache mode (without using a custom VCF)
Check if paralogues=remote works as expected
Check if matches option works with ClinVar file (location to file in ENSVAR-2596)
ENSVAR-2596
Requires https://github.com/Ensembl/ensembl-variation/pull/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 (please use
clnsig=ignore
to get all paralogue variants):--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