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feat: Gatk short-variants-calling meta-wrapper (#1778)
<!-- Ensure that the PR title follows conventional commit style (<type>: <description>)--> <!-- Possible types are here: https://github.com/commitizen/conventional-commit-types/blob/master/index.json --> ### Description I have been personally contacted by someone telling me they could not make Mutect2 work with Snakemake. I've been sending them this as an example. This PR adds GATK Mutect2 short variant calling meta-wrapper, following best practices described in their official web-site. This does not include neither hard-filtering, nor vcf annotation. ### QC <!-- Make sure that you can tick the boxes below. --> * [X] I confirm that: For all wrappers added by this PR, * there is a test case which covers any introduced changes, * `input:` and `output:` file paths in the resulting rule can be changed arbitrarily, * either the wrapper can only use a single core, or the example rule contains a `threads: x` statement with `x` being a reasonable default, * rule names in the test case are in [snake_case](https://en.wikipedia.org/wiki/Snake_case) and somehow tell what the rule is about or match the tools purpose or name (e.g., `map_reads` for a step that maps reads), * all `environment.yaml` specifications follow [the respective best practices](https://stackoverflow.com/a/64594513/2352071), * wherever possible, command line arguments are inferred and set automatically (e.g. based on file extensions in `input:` or `output:`), * all fields of the example rules in the `Snakefile`s and their entries are explained via comments (`input:`/`output:`/`params:` etc.), * `stderr` and/or `stdout` are logged correctly (`log:`), depending on the wrapped tool, * temporary files are either written to a unique hidden folder in the working directory, or (better) stored where the Python function `tempfile.gettempdir()` points to (see [here](https://docs.python.org/3/library/tempfile.html#tempfile.gettempdir); this also means that using any Python `tempfile` default behavior works), * the `meta.yaml` contains a link to the documentation of the respective tool or command, * `Snakefile`s pass the linting (`snakemake --lint`), * `Snakefile`s are formatted with [snakefmt](https://github.com/snakemake/snakefmt), * Python wrapper scripts are formatted with [black](https://black.readthedocs.io). * Conda environments use a minimal amount of channels, in recommended ordering. E.g. for bioconda, use (conda-forge, bioconda, nodefaults, as conda-forge should have highest priority and defaults channels are usually not needed because most packages are in conda-forge nowadays). --------- Co-authored-by: tdayris <tdayris@gustaveroussy.fr> Co-authored-by: tdayris <thibault.dayris@gustaveroussy.fr> Co-authored-by: Johannes Köster <johannes.koester@uni-due.de> Co-authored-by: github-actions[bot] <41898282+github-actions[bot]@users.noreply.github.com> Co-authored-by: snakedeploy-bot[bot] <115615832+snakedeploy-bot[bot]@users.noreply.github.com> Co-authored-by: Felix Mölder <felix.moelder@uni-due.de> Co-authored-by: Christopher Schröder <christopher.schroeder@tu-dortmund.de>
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name: GATK Variant calling best practice workflow | ||
url: https://gatk.broadinstitute.org/hc/en-us/sections/360007226651-Best-Practices-Workflows | ||
description: > | ||
Call short variants (SNP+INDEL) with GATK's Mutect2: | ||
+----------------+---------------------------+-------------------------------------------------------------+ | ||
| Step | Tool | Reason | | ||
+================+===========================+=============================================================+ | ||
+----------------+---------------------------+-------------------------------------------------------------+ | ||
| Indexing | Picard | Create genome sequence dictionnary | | ||
+----------------+---------------------------+-------------------------------------------------------------+ | ||
| Indexing | Samtools | Index fasta genome sequence | | ||
+----------------+---------------------------+-------------------------------------------------------------+ | ||
| Grouping | Picard | Add or replace possible missing read groups | | ||
+----------------+---------------------------+-------------------------------------------------------------+ | ||
| Indexing | Sambamba | Index re-grouped BAM-formatted alignments | | ||
+----------------+---------------------------+-------------------------------------------------------------+ | ||
| Calling | Mutect2 | Call short variants with Mutect2 | | ||
+----------------+---------------------------+-------------------------------------------------------------+ | ||
| Contaminations | GetPileupSummaries | Tabulates pileup metrics for inferring contamination | | ||
+----------------+---------------------------+-------------------------------------------------------------+ | ||
| Contaminations | CalculateContamination | Estimate cross sample contamination | | ||
+----------------+---------------------------+-------------------------------------------------------------+ | ||
| Orientation | LearnReadOrientationModel | Search for sequencing artifacts based on read orientation | | ||
+----------------+---------------------------+-------------------------------------------------------------+ | ||
| Filtering | FilterMutectCalls | Use previously estimated biases and filter variants | | ||
+----------------+---------------------------+-------------------------------------------------------------+ | ||
authors: | ||
- Thibault Dayris |
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rule create_dict: | ||
input: | ||
"genome.fasta", | ||
output: | ||
"genome.dict", | ||
threads: 1 | ||
resources: | ||
mem_mb=1024, | ||
log: | ||
"logs/picard/create_dict.log", | ||
params: | ||
extra="", | ||
wrapper: | ||
"master/bio/picard/createsequencedictionary" | ||
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rule samtools_index: | ||
input: | ||
"genome.fasta", | ||
output: | ||
"genome.fasta.fai", | ||
log: | ||
"logs/genome_index.log", | ||
params: | ||
extra="", # optional params string | ||
wrapper: | ||
"master/bio/samtools/faidx" | ||
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rule picard_replace_read_groups: | ||
input: | ||
"mapped/{sample}.bam", | ||
output: | ||
"picard/{sample}.bam", | ||
threads: 1 | ||
resources: | ||
mem_mb=1024, | ||
log: | ||
"logs/picard/replace_rg/{sample}.log", | ||
params: | ||
# Required for GATK | ||
extra="--RGLB lib1 --RGPL illumina --RGPU {sample} --RGSM {sample}", | ||
wrapper: | ||
"master/bio/picard/addorreplacereadgroups" | ||
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rule sambamba_index_picard_bam: | ||
input: | ||
"picard/{sample}.bam", | ||
output: | ||
"picard/{sample}.bam.bai", | ||
threads: 1 | ||
log: | ||
"logs/sambamba/index/{sample}.log", | ||
params: | ||
extra="", | ||
wrapper: | ||
"master/bio/sambamba/index" | ||
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rule mutect2_call: | ||
input: | ||
fasta="genome.fasta", | ||
fasta_dict="genome.dict", | ||
fasta_fai="genome.fasta.fai", | ||
map="picard/{sample}.bam", | ||
map_idx="picard/{sample}.bam.bai", | ||
intervals="regions.bed", | ||
output: | ||
vcf="variant/{sample}.vcf", | ||
bam="variant/{sample}.bam", | ||
f1r2="counts/{sample}.f1r2.tar.gz", | ||
threads: 1 | ||
resources: | ||
mem_mb=1024, | ||
params: | ||
extra=" --tumor-sample {sample} ", | ||
log: | ||
"logs/mutect/{sample}.log", | ||
wrapper: | ||
"master/bio/gatk/mutect" | ||
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rule gatk_get_pileup_summaries: | ||
input: | ||
bam="picard/{sample}.bam", | ||
bai_bai="picard/{sample}.bam.bai", | ||
variants="known.vcf.gz", | ||
variants_tbi="known.vcf.gz.tbi", | ||
intervals="regions.bed", | ||
output: | ||
temp("summaries/{sample}.table"), | ||
threads: 1 | ||
resources: | ||
mem_mb=1024, | ||
params: | ||
extra="", | ||
log: | ||
"logs/summary/{sample}.log", | ||
wrapper: | ||
"master/bio/gatk/getpileupsummaries" | ||
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rule gatk_calculate_contamination: | ||
input: | ||
tumor="summaries/{sample}.table", | ||
output: | ||
temp("contamination/{sample}.pileups.table"), | ||
threads: 1 | ||
resources: | ||
mem_mb=1024, | ||
log: | ||
"logs/contamination/{sample}.log", | ||
params: | ||
extra="", | ||
wrapper: | ||
"master/bio/gatk/calculatecontamination" | ||
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rule gatk_learn_read_orientation_model: | ||
input: | ||
f1r2="counts/{sample}.f1r2.tar.gz", | ||
output: | ||
temp("artifacts_prior/{sample}.tar.gz"), | ||
threads: 1 | ||
resources: | ||
mem_mb=1024, | ||
params: | ||
extra="", | ||
log: | ||
"logs/learnreadorientationbias/{sample}.log", | ||
wrapper: | ||
"master/bio/gatk/learnreadorientationmodel" | ||
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rule filter_mutect_calls: | ||
input: | ||
vcf="variant/{sample}.vcf", | ||
ref="genome.fasta", | ||
ref_dict="genome.dict", | ||
ref_fai="genome.fasta.fai", | ||
bam="picard/{sample}.bam", | ||
bam_bai="picard/{sample}.bam.bai", | ||
contamination="contamination/{sample}.pileups.table", | ||
f1r2="artifacts_prior/{sample}.tar.gz", | ||
output: | ||
vcf="variant/{sample}.filtered.vcf.gz", | ||
vcf_idx="variant/{sample}.filtered.vcf.gz.tbi", | ||
threads: 1 | ||
resources: | ||
mem_mb=1024, | ||
log: | ||
"logs/gatk/filter/{sample}.log", | ||
params: | ||
extra="--create-output-variant-index --min-median-mapping-quality 35 --max-alt-allele-count 3", | ||
java_opts="", | ||
wrapper: | ||
"master/bio/gatk/filtermutectcalls" |
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>FakeChrom | ||
ATCGATGCTGCTATAGCTATAGCTCTAGATCTGATCTGCTAGTATCGATCCGATTATTAGCGCGATTATAGCGTAGTCA | ||
ATCGATCTCGATATCGCGCTACGATCCGCGCGCGCGCGCGCATTATATCGATCGACGATGCTGCTAGCTAGCTGCTAGC |
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FakeChrom 3 157 region1 |
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wrappers: | ||
- bio/samtools/faidx | ||
- bio/picard/createsequencedictionary | ||
- bio/sambamba/index | ||
- bio/picard/addorreplacereadgroups | ||
- bio/gatk/mutect | ||
- bio/gatk/getpileupsummaries | ||
- bio/gatk/calculatecontamination | ||
- bio/gatk/learnreadorientationmodel | ||
- bio/gatk/filtermutectcalls |
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