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Input
-
Child reads
-
HiFi in
.bam
or.fastq.gz
-
HiFi in
-
Parent reads
-
HiFi in
.bam
or.fastq.gz
-
Paired end reads in
.bam
,.cram
, or (.R1.fasq.gz
+.R2.fasq.gz
)
-
Directory structure within basedir
.
├── cluster_logs # slurm stderr/stdout logs
├── config.yaml # customized copy of example_config.yaml
├── output_trio_assembly # output directory
│ └── <trio_id>
│ ├── fasta
│ ├── hifiasm
│ ├── logs
│ └── yak
└── workflow_trio_assembly # clone of this repo ├── calN50 └── rules └── envs
Run the pipeline
# clone workflow from github into directory named `workflow_trio_assembly`
git clone --recursive git@github.com:juniper-lake/trio-assembly-snakemake.git workflow_trio_assembly
# create directory for cluster logs to be stored.
mkdir cluster_logs
# create `config.yaml` based on `example_config.yaml`.
cp workflow_trio_assembly/example_config.yaml config.yaml
# adjust paths in Snakefile and sbatch script as necessary
# create conda environment to run snakemake workflow.
conda create --prefix ./conda_env --channel bioconda --channel conda-forge lockfile==0.12.2 python=3 snakemake mamba
# activate conda environment. **This conda env must be activated each time you run the workflow.**
conda activate ./conda_env
# run workflow by submitting sbatch script with <trio_id>.
sbatch workflow_trio_assembly/run_snakemake.sh <trio_id>
To Do
-
find out if yak requires R1 and R2 separate for paired end
- if not: remove sort step and remove step separating reads into separate files
Code Snippets
9 | shell: "(samtools fasta -@ 3 {input} > {output}) > {log} 2>&1" |
17 | shell: "(seqtk seq -A {input} > {output}) > {log} 2>&1" |
49 50 51 52 53 54 55 56 | shell: """ ( hifiasm -o {params.prefix} -t {threads} {params.extras} \ -1 {input.pat_yak} -2 {input.mat_yak} {input.fasta} \ && (echo -e "hap1\t{params.hap1}\nhap2\t{params.hap2}" > {output_dir}/{trio_id}/hifiasm/{wildcards.sample}.asm.key.txt) \ ) > {log} 2>&1 """ |
65 | shell: "(gfatools gfa2fa {input} > {output}) 2> {log}" |
75 | shell: "(bgzip --threads {threads} {input}) > {log} 2>&1" |
96 | shell: "(yak trioeval -t {threads} {input.pat_yak} {input.mat_yak} {input.fasta} > {output}) > {log} 2>&1" |
113 114 115 116 117 118 | shell: """ (minimap2 -t {params.minimap2_threads} {params.minimap2_args} {input.ref} \ -R '{params.readgroup}' {input.assembly} - \ | samtools sort -@ {params.samtools_threads} {params.samtools_mem} > {output}) > {log} 2>&1 """ |
128 | shell: "(samtools index -@ 3 {input}) > {log} 2>&1" |
101 | shell: "md5sum {input} > {output}" |
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Created: 1yr ago
Updated: 1yr ago
Maitainers:
public
URL:
https://github.com/juniper-lake/trio-assembly-snakemake
Name:
trio-assembly-snakemake
Version:
1
Downloaded:
0
Copyright:
Public Domain
License:
None
Keywords:
- Future updates
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