User manual

Usage:

perl sr_inversion.pl [options]

Options:

-h,--help

Print a brief help message and exits.

-m,--man

Prints the manual page and exits.

-i,--input

Input bam file (Required)

-o,--outpre

Prefix of output file (Required)

-s,--scenario

Which scenario to use (Required): scenario 1: inversion

partially covered by read scenario 2: inversion completely

covered by read

-t,--step

Which step to run only (all steps will be processed by default):

step1: Extract low quality reads step2: Split reads step3:

re-map splitted reads step4: Select candidate reads step5:

Detect inversion regions step6: Combine inversion regions

-c,--chr

Limited on which chromosome, all chromosomes (1..2,X,Y,M) will

be used by default.

-b,--bwa

Location of BWA for mapping

-l,--samtools

Location of samtools for bam/sam files handling

-r,--reference

Location of references in FASTA format (Required)

-k,--keep

Keep all intermediate files. (Will generate large files, caution

when using whole genome high-coverage data>

-p,--path

Path of libraries.

-cp,--clip

Only reads with longer than #bp clipped ends will be included

for scenario 1 [10]

-g,--gap

#bp gap length for sliding window to move on each time when

splitting reads [1]

-m,--match

Only select exact matched reads

-mw,--minwin

minimum window size for invertion in each read in scenario 2 [5]

-mi,--maxinv

maximum inversion to be included for scenario 1 [1000]

Example:

Scenario 1: perl SRinversion.pl -i chr20.bam -o sen1 -s 1 -c 20 -r chr20.fa --keep

Scenario 2: perl SRinversion.pl -i chr20.bam -o sen2 -s 2 -c 20 -g 5 -r chr20.fa --keep