-
Notifications
You must be signed in to change notification settings - Fork 10
New issue
Have a question about this project? Sign up for a free GitHub account to open an issue and contact its maintainers and the community.
By clicking “Sign up for GitHub”, you agree to our terms of service and privacy statement. We’ll occasionally send you account related emails.
Already on GitHub? Sign in to your account
Feature/grch38 #904
Feature/grch38 #904
Conversation
- Added chr prefix for 2 recipe regexp looking for miochondrial contig
- Added download from gatk google bucket for human genome build
- Modified system call to use IPC::Cmd instead of open3 due to cache issue - Adjusted hg38 to grch38 for test data - Added download from gatk google bucket for human assembly - Added download of recent grch38 clinvar vcf
- Added primary assembly contigs per version to constants - Refactored set_contigs sub to use constant and set alt_loci to file_info
contigs - Added test
- Gatk baserecal (mills and 100g indels) - Gnomad v r2.1.1 - Fixed test broken by hg38 -> grch38
- Added optional parameter to specify call regions file to MIP rd_dna - Added use in recipe and program - Added download from reference dir on github
- Added synonyms option to vep program API - Added utility sub to get synonyms file depending on genome build version in recipes - Updated test - Added test
- Increased memory for sv_annotate from 7 to 19 Gb since vcfanno ran out of memory
There was a problem hiding this comment.
Choose a reason for hiding this comment
The reason will be displayed to describe this comment to others. Learn more.
Nice work!
lib/MIP/Recipes/Analysis/Vep.pm
Outdated
@@ -1562,6 +1597,60 @@ sub _get_assembly_name { | |||
return $assembly_version; | |||
} | |||
|
|||
sub _get_vep_synonyms_file { |
There was a problem hiding this comment.
Choose a reason for hiding this comment
The reason will be displayed to describe this comment to others. Learn more.
Is this sub needed? Can't you just use the create_vep_synonyms_file sub directly. It looks like that sub should return directly if it can't find a vep synonym hash, which should only be present for grch38
Co-Authored-By: Anders Jemt <jemten@users.noreply.github.com>
This PR fixes:
How to test:
Expected outcome:
Review: