Scalpel is a software package for detecting INDELs (INsertions and DELetions) mutations in a reference genome which has been sequenced with next-generation sequencing technology (e.g., Illumina). Scalpel is designed to perform localized micro-assembly of specific regions of interest with the goal of detecting mutations with high accuracy and increased power. It is based on the de Bruijn graph assembly paradigm and implements an on-the-fly repeat composition analysis coupled with a self-tuning k-mer strategy to increase specificity in regions characterized by complex repeat structures. It supports three different modes of operation:

• Single: in single mode scalpel detects INDELs in one single dataset (e.g., one individual exome).
• Denovo: in denovo mode scalpel detects de novo INDELs in one family of four individuals (mom, dad, aff, sib).
• Somatic: in somatic mode scalpel detects somatic INDELs for a tumor/sample pair.

For all the modes of operation, scalpel requires that the raw reads have been previously aligned with BWA using default parameters. See BWA description for more info.

• https://github.com/mjafin/scalpel

• Module Name: scalpel (see the modules page for more information)

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

[user@biowulf]$ sinteractive
salloc.exe: Pending job allocation 46116226
salloc.exe: job 46116226 queued and waiting for resources
salloc.exe: job 46116226 has been allocated resources
salloc.exe: Granted job allocation 46116226
salloc.exe: Waiting for resource configuration
salloc.exe: Nodes cn3144 are ready for job

[user@cn3144 ~]$ module load scalpel
[user@cn3144 ~]$ scalpel-discovery --single --bam file.bam --bed regions.bed --ref genome.fa

[user@cn3144 ~]$ exit
salloc.exe: Relinquishing job allocation 46116226
[user@biowulf ~]$

Create a batch input file (e.g. batch.sh). For example:

#!/bin/bash
set -e
module load scalpel
scalpel-discovery --single --bam file.bam --bed regions.bed --ref genome.fa

Submit this job using the Slurm sbatch command.

sbatch [--mem=#] batch.sh

Create a swarmfile (e.g. job.swarm). For example:

cd dir1; scalpel-discovery --single --bam file.bam --bed regions.bed --ref genome.fa
cd dir2; scalpel-discovery --single --bam file.bam --bed regions.bed --ref genome.fa
cd dir3; scalpel-discovery --single --bam file.bam --bed regions.bed --ref genome.fa

Submit this job using the swarm command.

swarm -f job.swarm [-g #] --module scalpel