hmfGeneAnnotation is an R package designed to determine the amplification/biallelic loss status of a set of genes (provided as a bed file) based on copy number and SNV/indel data generated by the HMF variant calling pipeline.
default_bed <- read.delim( file=system.file('misc/cosmic_cancer_gene_census_20200225.bed',package='hmfGeneAnnotation'), check.names=F ) head(default_bed)
First install the package and its dependencies.
## Install dependencies install.packages('seqminer') ## Install hmfGeneAnnotation install.packages('devtools'); library(devtools) install_github('https://github.com/UMCUGenetics/hmfGeneAnnotation/')
detGeneStatuses()
is the main function of the package. The user may specify the path to a
bed.file
, but if unspecified, the one included in this package will be used. The user may also
optionally specify the path to the java binary (java.path
; default is the one installed on the
system), as well as the path to the SnpSift jar (snpsift.path
; default is the jar included at
inst/dep/SnpSift.jar
).
detGeneStatuses( out.dir='/path/to/write/output/files/', hmf.pl.output.paths=c( germ_vcf='/path/to/annotated.vcf.gz', som_vcf='/path/to/purple.somatic.vcf.gz', gene_cnv='/path/to/purple.cnv.gene.tsv', cnv='/path/to/purple.cnv.somatic.tsv' ), sample.name='sample_name', ## Optional arguments bed.file='/path/to/bed/file', java.path='/path/to/java/binary', snpsift.path='/path/to/snpsift/jar', verbose=T )
The output is a table where each row contains (1) data about copy number gains at the chromosome arm level relative to the genome ploidy, and local copy number gains relative to the chromosome arm ploidy; (2) data about losses/mutations of allele 1 and allele 2, with each variant being given an impact score from 0-5 based on ClinVar annotations (has priority) or SnpEff variant type annotations. Below is a schematic overview of the output table.
|| gene_metadata || CN_gain_info || allele_1_losses || allele_2_losses || || || || variant_type | impact_score || variant_type | impact_score || ------------------------------------------------------------------------------------------------------ gene1 || || || | || | || gene2 || || || | || | || ...
score | ClinVar | Snpeff ----------------------------------------------------------- 5 | pathogenic | frameshift 4 | likely_pathogenic | nonsense 3 | VUS | missense, splice, inframe indel 2 | likely_benign | other variants 1 | benign | other variants 0 | no data available | other variants
biallel_event | allele1_event | allele2_event --------------------------------------------- CN loss | deep deletion | deep deletion CN loss | truncation | truncation LOH+som | LOH | SNV/indel LOH+germ | LOH | SNV/indel som+som | SNV/indel | SNV/indel germ+som | SNV/indel | SNV/indel
pkg_dir <- '/Users/lnguyen/hpc/cog_bioinf/cuppen/project_data/Luan_projects/CHORD/scripts_main/hmfGeneAnnotation/' file.copy( paste0(pkg_dir,'/doc/README.md'), paste0(pkg_dir,'/README.md'), overwrite=T ) ##file.remove(paste0(pkg_dir,'/doc/README.md'))
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