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Merge branch 'main' into sfitz-adjust-learnReadOrientatin-mem
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sorelfitzgibbon authored Mar 28, 2023
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1 change: 1 addition & 0 deletions CHANGELOG.md
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Expand Up @@ -7,6 +7,7 @@ and this project adheres to [Semantic Versioning](https://semver.org/spec/v2.0.0
## [Unreleased]

### Added
- Add Mutect2 flow chart
- Add plantUML action and MuSE flow chart
- Add NF-test

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20 changes: 9 additions & 11 deletions README.md
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Expand Up @@ -93,7 +93,7 @@ Version: v2.9.10 (Released on Nov 7, 2018)
GitHub Package: ghcr.io/uclahs-cds/strelka2:2.9.10
### Mutect 2
![alt text](docs/mutect2_chart.svg)
#### Tools
##### GATK
GATK source: https://github.com/broadinstitute/gatk
Expand Down Expand Up @@ -141,24 +141,22 @@ The input pair of tumor/normal bam files, along with the candidate small indel f
### GATK Mutect 2
#### 1. Intervals not provided
##### a. Split non-canonical
Split the set of non-canonical chromosomes into x intervals for parallelization, where x is defined by the input scatter_count.
##### b. Call non-canonical
##### a. Call non-canonical
Call somatic variants in non-canonical chromosomes with `Mutect2`.
##### c. Split canonical
##### b. Split canonical
Split the set of canonical chromosomes into x intervals for parallelization, where x is defined by the input `params.scatter_count`.
##### d. Call canonical
##### c. Call canonical
Call somatic variant in canonical chromosomes with `Mutect2`.
##### e. Merge
##### d. Merge
Merge scattered canonical and non-canonical chromosome outputs (vcfs, statistics).
##### f. Learn read orientations
##### e. Learn read orientations
Create artifact prior table based on read orientations with GATK's `LearnReadOrientationModel`.
##### g. Filter
##### f. Filter
Filter variants with GATK's `FilterMutectCalls`, using read orientation prior table and contamination table as well as standard filters.
#### 2. Intervals provided
##### a. Split
Split the set of provided intervals into x intervals for parallelization, where x is defined by the input scatter count.
Split the set of provided intervals into x intervals for parallelization, where x is defined by the input `params.scatter_count`.
##### b. Call
Call somatic variants for the provided intervals with `Mutect2`.
##### c. Merge
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| gatk_command_mem_diff | yes | nextflow.util.MemoryUnit | How much to subtract from the task's allocated memory where the remainder is the Java heap max. (should not be changed unless task fails for memory related reasons) |
| scatter_count | yes | int | Number of intervals to split the desired interval into. Mutect2 will call each interval seperately. |
| intervals | no | string | A GATK accepted interval list file containing intervals to search for somatic mutations. <br/> If empty or missing, will optimally partition canonical genome based on scatter_count and process non-canonical regions separately. This is the default use case. <br/> If specified and evaluates to a valid path, will pass that path to GATK to restrict the genomic regions searched. |
| germline_resource_gnomad_vcf | no | path | A copy of the gnomAD VCF only kept AF but stripped of all unnecessary INFO fields, currently available for GRCh38:`/hot/ref/tool-specific-input/GATK/GRCh38/af-only-gnomad.hg38.vcf.gz` and GRCh37: `/hot/ref/tool-specific-input/GATK/GRCh37/af-only-gnomad.raw.sites.vcf`. |
| germline_resource_gnomad_vcf | no | path | A stripped down version of the [gnomAD VCF](https://gnomad.broadinstitute.org/) stripped of all unneeded INFO fields, keeping only AF, currently available for GRCh38:`/hot/ref/tool-specific-input/GATK/GRCh38/af-only-gnomad.hg38.vcf.gz` and GRCh37: `/hot/ref/tool-specific-input/GATK/GRCh37/af-only-gnomad.raw.sites.vcf`. |


#### MuSE Specific Configuration
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