variation discovery using long range information in linked-reads
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sonic @ dab878a
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README.md

VALOR

VAriation with LOng Range information

Requirements

Fetching VALOR

git clone https://github.com/BilkentCompGen/valor.git --recursive

Compilation

Type:

make libs

make

cp valor /path/to/your/favorite/binaries (or sudo make install)

Running VALOR

Required Parameters:

-i, --input [BAM files]        : Input files in sorted BAM format.

-o, --out   [output folder]    : Folder to put stuff in
    
-s, --sonic  [sonic file]      : Sonic file. Check: https://github.com/calkan/sonic.
    
-f, --svs_to_find   [sv type]: Among INV,DUP,IDUP. Multi SV discovery not implemented.

Optional Parameters:

-l, --log_file [logfile name]: default is valor.log

Help Parameters:

-v, --version                  : Print version and exit.
    
-h, --help                     : Print help screen and exit.

Example:

valor -i input.bam -s hg19.sonic -o folder_name -f DUP

SONIC file (annotations container)

SONIC files are available under https://github.com/BilkentCompGen/sonic-prebuilt/

  • human_g1k_v37.sonic: SONIC file for Human Reference Genome GRCh37 (1000 Genomes Project version)

  • ucsc_hg19.sonic: SONIC file for the human reference genome, UCSC version build hg19.

  • GRCh38.sonic: SONIC file for the human reference genome build 38.

Make sure that the same reference was used to align the reads beforehand (BAM file) and to create the SONIC file. The SONIC files and the reference FASTA files linked above are compatible.

Building a new SONIC file

Please refer to the SONIC development repository: https://github.com/calkan/sonic/

OUTPUT FORMAT

in [OUTPUT_DIR]/predicted_inversions.bedpe

Chromosome-name BP1-start BP1-end Chromosome-name BP2-start BP2-end SV_TYPE 10XG-Support Read_Pair_Support Molecule_Depth
  • Read pair Support: Number of read-pairs that support these breakpoints
  • 10XG Support: Number of 10XG Molecule-pairs that support these breakpoints

Docker Usage

To build a valor Docker image

cd docker
docker build . -t valor:latest

Your image named "valor" should be ready. You can run valor using this image by

docker run --user=$UID -v /path/to/inputs:/input -v /path/to/outputdir:/output valor [args]
  • [args] are usual arguments you would pass to valor executable. Be careful about mapping. You need to specify folders respective to container directory structure.
  • You need to map host machine input and output directory to responding volume directories inside the container. These options are specified by '-v' argment.
  • Docker works with root user by default. "--user" option saves your outputs.