Skip to content
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

Merged
merged 15 commits into from
Aug 14, 2019
Merged

Feature/grch38 #904

merged 15 commits into from
Aug 14, 2019

Conversation

henrikstranneheim
Copy link
Collaborator

This PR fixes:

How to test:

  • Automatic and continuous test pass

Expected outcome:

  • Installation, unit and integration tests pass

Review:

  • Code review
  • New code is executed and covered by tests
  • Tests pass

- 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
- 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
Copy link
Collaborator

@jemten jemten left a 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lib/MIP/Check/Parameter.pm Outdated Show resolved Hide resolved
lib/MIP/Get/File.pm Outdated Show resolved Hide resolved
@@ -1562,6 +1597,60 @@ sub _get_assembly_name {
return $assembly_version;
}

sub _get_vep_synonyms_file {
Copy link
Collaborator

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

lib/MIP/Set/Contigs.pm Outdated Show resolved Hide resolved
lib/MIP/Set/Contigs.pm Outdated Show resolved Hide resolved
@henrikstranneheim henrikstranneheim merged commit e7cd27c into develop Aug 14, 2019
@henrikstranneheim henrikstranneheim deleted the feature/grch38 branch August 14, 2019 13:43
Sign up for free to join this conversation on GitHub. Already have an account? Sign in to comment
Labels
None yet
Projects
None yet
Development

Successfully merging this pull request may close these issues.

2 participants