STRipy-pipeline

STRipy-pipeline is non-graphical command-line version of STRipy that can be integrated into pipelines and analyse multiple STR or VNTR loci in parallel.

References:

Documentation
Important Notes

Example
Interactive jobs should be used for debugging, graphics, or applications that cannot be run as batch jobs.

Allocate an interactive session and run the program. Sample session:

[user@biowulf]$ sinteractive 
[user@cn4471 ~]$ module load stripy-pipeline
[+] Loading stripy-pipeline  2.5  on cn4284
[+] Loading singularity  4.0.1  on cn4284
[+] Loading samtools 1.19  ...
[+] Loading REViewer  0.2.7
[+] Loading expansionhunter  5.0.0  on cn4284
Copy sample data to the current folder:
[user@cn4471 ~]$ cp -a $STRIPY_PIPELINE_HOME/examples .
[user@cn4471 ~]$ python3 $STRIPY_PIPELINE_HOME/stri.py -h
usage: stri.py [-h] --input INPUT [--locus LOCUS] [--custom CUSTOM] [--sex {male,female}] [--genome {hs1,hg38,hg19}] --reference REFERENCE [--analysis {standard,extended}]
               [--output OUTPUT] [--logflags LOGFLAGS] [--config CONFIG]

optional arguments:
  -h, --help            show this help message and exit
  --input INPUT         Input file (indexed BAM or CRAM)
  --locus LOCUS         Loci to genotype
  --custom CUSTOM       Custom loci file path (BED file)
  --sex {male,female}   Sex of the sample
  --genome {hs1,hg38,hg19}
                        Name of the reference genome
  --reference REFERENCE
                        Reference genome (FASTA file)
  --analysis {standard,extended}
                        Analysis type
  --output OUTPUT       Output folder
  --logflags LOGFLAGS   File path of the output log file
  --config CONFIG       File path of the config file
Running STRipy on single sample:
[user@cn4471 ~]$ python3 $STRIPY_PIPELINE_HOME/stri.py \
      --genome hg38 \
      --reference /fdb/genomebrowser/fasta/hg38/hg38.fa \
      --output results/ \
      --locus AFF2,ATXN3,HTT,PHOX2B \
      --input examples/Sample001_hg38.bam
Starting analysis (examples/Sample001_hg38.bam)
Analysis finished (examples/Sample001_hg38.bam)
[user@cn4471 ~]$ exit
salloc.exe: Relinquishing job allocation 46116226
[user@biowulf ~]$