Run VEP with Paralogues options regions=1,min_perc_cov=0,min_perc_pos=0,clnsig=ignore and enable --vcf option to return VCF output
Run the following command on the VEP output: perl -e "use Paralogues; Paralogues::prepare_matches_file('variant_effect_output.txt', 'paralogue_matches.tsv')"
The resulting file will be a bgzipped, Tabix-indexed TSV matches file that can be used in Paralogues plugin using the matches parameter.
Testing
Try creating a matches file based on a ClinVar VCF file and using the Paralogues plugin with the resulting file.
ENSVAR-6290: The Paralogues plugin will now support a Tabix-indexed TSV file with pre-computed matches between genomic regions and paralogue variants.
Requires https://github.com/Ensembl/ensembl-variation/pull/1099UPDATE 16b9915: ensembl-variation functions reverted to this PR, too complex to separate the functions in the current design of both repos.Creating a matches file
regions=1,min_perc_cov=0,min_perc_pos=0,clnsig=ignore
and enable--vcf
option to return VCF outputperl -e "use Paralogues; Paralogues::prepare_matches_file('variant_effect_output.txt', 'paralogue_matches.tsv')"
The resulting file will be a bgzipped, Tabix-indexed TSV matches file that can be used in Paralogues plugin using the
matches
parameter.Testing
Try creating a matches file based on a ClinVar VCF file and using the Paralogues plugin with the resulting file.
Example plugin options in VEP:
Example input variants: