vembrane
uses python expressions to filter variants. From the documentation:
vembrane allows to simultaneously filter variants based on any INFO or FORMAT field, CHROM, POS, ID, REF, ALT, QUAL, FILTER, and the annotation field ANN. When filtering based on ANN, annotation entries are filtered first. If no annotation entry remains, the entire variant is deleted.
vembrane
(see the modules page for more information)
$VEMBRANE_TEST_DATA
Allocate an interactive session and run the program.
Sample session (user input in bold):
[user@biowulf]$ sinteractive --gres=lscratch:10 --mem=10g -c2 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 vembrane [user@cn3144 ~]$ cd /lscratch/$SLURM_JOB_ID [user@cn3144 ~]$ cp ${VEMBRANE_TEST_DATA:-none}/HG001* . [user@cn3144 ~]$ ls -lh -rw-r--r-- 1 user group 89M Jul 1 13:01 AshkenazimTrio_chr1_annot.bcf -rw-r--r-- 1 user group 131K Jul 1 13:10 AshkenazimTrio_chr1_annot.bcf.csi -rw-r--r-- 1 user group 17K Jul 1 12:31 AshkenazimTrio_chr1_annot.vcf_summary.html [user@cn3144 ~]$ bcf=AshkenazimTrio_chr1_annot.bcf [user@cn3144 ~]$ ## Count the number of variants marked as HIGH impact per gene in the trio [user@cn3144 ~]$ vembrane filter -O bcf 'ANN["IMPACT"]=="HIGH"]' $bcf 2> /dev/null \ | vembrane table 'ANN["SYMBOL"], ANN["IMPACT"]' \ | cut -f1 | sort | uniq -c | sort -k1,1nr | head 28 PPIEL 17 11 FLG-AS1 8 LINC01360 7 GCSAML 6 FCGR2A 6 FCGR2C 6 GPATCH4 6 KIAA0040 6 KLHDC8A [user@cn3144 ~]$ vembrane filter -O bcf -o ppiel.bcf 'ANN["SYMBOL"] == "PPIEL"' $bcf 2>/dev/null [user@cn3144 ~]$ exit salloc.exe: Relinquishing job allocation 46116226 [user@biowulf ~]$
Create a batch input file (e.g. vembrane.sh). For example:
#!/bin/bash set -e module load vembrane/1.0.5 vembrane filter -O bcf -o output.bcf 'ANN["IMPACT"]=="HIGH"]' input.bcf
Submit this job using the Slurm sbatch command.
sbatch --cpus-per-task=2 --mem=6g vembrane.sh
Create a swarmfile (e.g. vembrane.swarm). For example:
vembrane filter -O bcf -o output_chr1.bcf 'ANN["IMPACT"]=="HIGH"]' input_chr1.bcf vembrane filter -O bcf -o output_chr2.bcf 'ANN["IMPACT"]=="HIGH"]' input_chr2.bcf
Submit this job using the swarm command.
swarm -f vembrane.swarm -g 6 -t 2 --module vembrane/1.0.5where
-g # | Number of Gigabytes of memory required for each process (1 line in the swarm command file) |
-t # | Number of threads/CPUs required for each process (1 line in the swarm command file). |
--module vembrane | Loads the vembrane module for each subjob in the swarm |