Fisher Case /Controls per Variant
This program is now part of the main jvarkit
tool. See jvarkit for compiling.
Usage: java -jar dist/jvarkit.jar vcfburdenfisherh [options] Files
Usage: vcfburdenfisherh [options] Files
Options:
--attribute
Name of the attribute used for INFO
Default: BurdenHFisher
--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
-F2, --ctrlgtcase
Set this FILTER if the proportion of Controls carrying a ALT allele is
creater than proportion of CASES. if blank, variant is discarded.
Default: CTRL_CASE_RATIO
-F1, --filter
if this value is not blank, the FILTER will be set for this variant if
the fisher values are out of the bounds.
Default: BurdenHFisher
--generate-vcf-md5
Generate MD5 checksum for VCF output.
Default: false
-gtf, --gtf, --gtFiltered
[20180115] Ignore FILTERed **Genotype**
Default: false
-h, --help
print help and exit
--helpFormat
What kind of help. One of [usage,markdown,xml].
-ignoreFiltered, --ignoreFiltered
[20171031] Don't try to calculate things why variants already FILTERed
(faster)
Default: false
-M, --max-fisher
max inclusive value of fisher test. A decimal number between 0.0 and
1.0. If the value ends with '%' it is interpretted as a percentage eg.
'1%' => '0.01'. A slash '/' is interpretted as a ratio. e.g: '1/100' =>
'0.01'.
Default: 1.0
-m, --min-fisher
min inclusive value of fisher test. A decimal number between 0.0 and
1.0. If the value ends with '%' it is interpretted as a percentage eg.
'1%' => '0.01'. A slash '/' is interpretted as a ratio. e.g: '1/100' =>
'0.01'.
Default: 0.0
-o, --out
Output file. Optional . Default: stdout
* -p, --pedigree
A pedigree file. tab delimited. Columns: family,id,father,mother,
sex:(0|.|undefined|unknown:unknown;1|male|M:male;2|female|F:female),
phenotype
(-9|?|.:unknown;1|affected|case:affected;0|unaffected|control:unaffected)
-Q, --qual
Overwrite QUAL column with the lowest fisher value.
Default: false
--report
[20190418] save report as bed file
--version
print version and exit
20160418
The project is licensed under the MIT license.
Should you cite vcfburdenfisherh ? 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
Variants in that VCF should have one and only one ALT allele. Use https://github.com/lindenb/jvarkit/wiki/VcfMultiToOneAllele if needed.
VCF header must contain a pedigree ( see VCFinjectPedigree ) or a pedigree must be defined.