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- treat fastq files until bam the same - call only on the set of variants identified after quality/depth filter (this is the first place where vcf file is only variants and not all sites) - merge into the all vcf file
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Needs testing. (We should consider adding a testing dataset) |
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Tests run through now. Some caveats/issues here:
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Pull request overview
Implements explicit outgroup handling in the Snakemake variant-calling pipeline so outgroup individuals are processed through mapping like other samples, then genotyped only at already-identified variant sites and merged into the final VCF.
Changes:
- Added
outgroup_individualsconfig and updated sample parsing to optionally include/exclude outgroup individuals. - Added per-chromosome outgroup calling and a merge step to join outgroup genotypes into chromosome VCFs before downstream filtering/merging.
- Renamed/propagated final VCF naming to include the outgroup stage (
IF-OG-...) and updated example config/inputs.
Reviewed changes
Copilot reviewed 10 out of 12 changed files in this pull request and generated 3 comments.
Show a summary per file
| File | Description |
|---|---|
| workflow/Snakefile | Updates the default “all” target to the new final VCF including outgroup stage. |
| workflow/rules/scripts.smk | Extends get_individuals() with an include_outgroup toggle driven by config. |
| workflow/rules/read_processing.smk | Includes outgroup individuals in FASTQ-trimming/summary expansions. |
| workflow/rules/read_mapping.smk | Includes outgroup individuals in BAM generation targets. |
| workflow/rules/call.smk | Generalizes per-sample rename inputs via {group} and adds per-chromosome outgroup calling. |
| workflow/rules/filter.smk | Excludes outgroup from initial cohort filtering, then merges outgroup calls into IF VCFs and continues filtering. |
| workflow/rules/consensus.smk | Includes outgroup individuals in consensus FASTA generation. |
| example/individuals.txt | Adds an example outgroup individual FASTQ entries. |
| example/config.yml | Adds outgroup_individuals example configuration. |
| config.yml.template | Adds outgroup_individuals default configuration key. |
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Closes #21
Workflow for outgroup files: