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hlaminer

HLAminer is a software for HLA predictions from next-generation shotgun (NGS) sequence read data and supports direct read alignment and targeted de novo assembly of sequence reads.

Overview

Dependencies

Usage

Cromwell

java -jar cromwell.jar run hlaminer.wdl --inputs inputs.json

Inputs

Required workflow parameters:

Parameter Value Description
fastqR1 File Input file with the first mate reads.
fastqR2 File Input file with the second mate reads.
outputFileNamePrefix String Output prefix, customizable. Default is the first file's basename.

Optional task parameters:

Parameter Value Default Description
runHlaMiner.jobMemory Int 8 Memory allocated to the task.
runHlaMiner.timeout Int 20 Timeout in hours, needed to override imposed limits.
runHlaMiner.hlaMiner String "$HLAMINER_ROOT/bin/HLAminer.pl" Path to the HLAminer.pl script
runHlaMiner.hlaFasta String "$HLAMINER_BWA_INDEX_ROOT/HLA-I_II_GEN.fasta" Path to the reference fasta file
runHlaMiner.pDesignationFile String "$HLAMINER_BWA_INDEX_ROOT/HLAminer_v1.4/database/hla_nom_p.txt" P-designation file, contains details of all HLA Sequences having the same antigen binding domains
runHlaMiner.modules String "hlaminer/1.4 hlaminer-bwa-index/0.7.17 bwa/0.7.17" Names and versions of required modules.

Outputs

Output Type Description
resultFile File Reporting alignment metrics
logFile File Log file with run info from HLAminer

Commands

This section lists command(s) run by the hlaminer workflow

  • Running hlaminer

hlaminer wraps HLAminer () tool in a cromwell workflow. HLAminer is used to profile the usage of HLA alleles in a sample. The tool works with sequence data of many types (ie. whole genome, whole transcriptome/RNA-Seq, exome), at the group and allele resolution. It supports predictions from a variety of DNA sequencing technologies including those from Illumina, MGI, PacBio and Oxford Nanopore.

The workflow takes fastq files as it's inputs and aligns using HLA-specific indexes using BWA (it is ran as a subworkflow). Below we have the command used to run HLAminer:

 set -euo pipefail

 bwa aln -e 0 -o 0 HLA_FASTA FASTQ1 > "ALIGNMENT1_SAI"
 bwa aln -e 0 -o 0 HLA_FASTA FASTQ2 > "ALIGNMENT2_SAI"
 bwa sampe -o 1000 HLA_FASTA "ALIGNEMNT1_SAI" "ALIGNMENT2_SAI" FASTQ1 FASTQ2 > "ALIGNMENT_SAM"
 
 HLAMINER -a "ALIGNMENT_SAM" -h HLA_FASTA -p P_DESIGNATION_FILE -l OUTPUT_PREFIX

Support

For support, please file an issue on the Github project or send an email to gsi@oicr.on.ca .

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