Annotate a VCF with values from a bigwig file
This program is now part of the main jvarkit
tool. See jvarkit for compiling.
Usage: java -jar dist/jvarkit.jar vcfbigwig [options] Files
Usage: vcfbigwig [options] Files
Options:
--bcf-output
If this program writes a VCF to a file, The format is first guessed from
the file suffix. Otherwise, force BCF output. The current supported BCF
version is : 2.1 which is not compatible with bcftools/htslib (last
checked 2019-11-15)
Default: false
* -B, --bigwig
Path/URI to bigwig file.
--generate-vcf-md5
Generate MD5 checksum for VCF output.
Default: false
-h, --help
print help and exit
--helpFormat
What kind of help. One of [usage,markdown,xml].
-o, --out
Output file. Optional . Default: stdout
-T, --tag, -tag
Name of the INFO tag. default: name of the bigwig
--version
print version and exit
20200506
The project is licensed under the MIT license.
Should you cite vcfbigwig ? https://github.com/mr-c/shouldacite/blob/master/should-I-cite-this-software.md
The current reference is:
http://dx.doi.org/10.6084/m9.figshare.1425030
Lindenbaum, Pierre (2015): JVarkit: java-based utilities for Bioinformatics. figshare. http://dx.doi.org/10.6084/m9.figshare.1425030
java -jar dist/vcfbigwig.jar \
-T GERP \
-B gerp.bw input.vcf.gz
##INFO=<ID=GERP,Number=1,Type=Float,Description="Values from bigwig file: com.github.lindenb.jvarkit.tools.vcfbigwig.VCFBigWig BIGWIG=gerp.bw TAG=GERP IN=input.vcf.gz VERBOSITY=INFO QUIET=false VALIDATION_STRINGENCY=STRICT COMPRESSION_LEVEL=5 MAX_RECORDS_IN_RAM=500000 CREATE_INDEX=false CREATE_MD5_FILE=false">
#CHROM POS ID REF ALT QUAL FILTER INFO(...)
A 33926 . G A 182 . GERP=-6.35(...)
A 45365 . A G 222 . GERP=-3.55(...)