Description Usage Arguments Examples
View source: R/variantCalling.R
Aligned and co-cleaned BAM files are processed as tumor-normal pairs. Variant calling is performed using six separate pipelines:
1 2 3 4 5 6 7 8 9 10 11 12 13 14 15 16 17 18 19 20 21 22 23 24 25 26 27 28 29 30 | variantCalling(
tumor_file,
normal_file,
sample_name,
ref = "/imppc/labs/lplab/share/marc/refgen/hg38/hg38.fa",
out_path,
threads = 1,
gatk4 = "/imppc/labs/lplab/share/bin/gatk-4.1.3.0/gatk",
muse = "/imppc/labs/lplab/share/marc/repos/MuSE/MuSE",
bwa = "bwa",
samblaster = "samblaster",
sambamba = "sambamba",
samtools = "samtools",
somatic_sniper = "/imppc/labs/lplab/share/marc/repos/somatic-sniper/build/bin/bam-somaticsniper",
varscan2 = "/imppc/labs/lplab/share/marc/repos/varscan/VarScan.v2.4.4.jar",
manta = "/software/debian-8/bio/manta-1.4.0",
strelka2 = "/soft/bio/strelka-2.9.3",
af_only_gnomad = "/imppc/labs/lplab/share/marc/refgen/hg38/af-only-gnomad.hg38.vcf.gz",
pindel = "/soft/bio/pindel/pindel",
centromeres_telomeres = "/imppc/labs/lplab/share/marc/refgen/hg38/centromeres.bed",
perl = "perl",
python_radia = "/imppc/labs/lplab/share/marc/repos/miniconda/bin/python2.7",
radia_path = "/imppc/labs/lplab/share/marc/repos/radia/scripts",
bcftools = "bcftools",
tumor_vcf_id = "TUMOR",
fpfilter = "/imppc/labs/lplab/share/marc/repos/fpfilter-tool/fpfilter.pl",
bam_readcount = "bam-readcount"
)
|
tumor_file |
Tumor bam to file to perform the variant calling. |
normal_file |
Normal bam to file to perform the variant calling. |
ref |
Path for the reference genome to use for the alignment (fasta format) and the corresponding indexes generated with bwa index and a dictionary index file generated by CreateSequenceDictionary gatk tool. |
out_path |
Path where the output of the analysis will be saved. |
threads |
Number of threads to use in the analysis. |
gatk4 |
Path of GATK4 binary. |
muse |
Path of MuSE binary. |
bwa |
Path of bwa binary. |
samblaster |
Path of samblaster binary. |
sambamba |
Path of sambamba binary |
samtools |
Path of samtools binary. |
somatic_sniper |
Path of SomaticSniper binary. |
manta |
Path of manta binary. |
strelka2 |
Path of strelka2 binary. |
af_only_gnomad |
Genome aggregation database used as a germline resource. Have to be base on the same reference genome as 'ref'. gnomAD |
pindel |
Path of Pindel binary. |
centromeres_telomeres |
Bed file with the centromers and/or telomeres base on the same reference genome as 'ref'. |
perl |
Path of perl executable. |
python_radia |
Path to the python binary with all the RADIA prerequisites. |
tumor_vcf_id |
Id of the tumor sample in vcf. By default 'TUMOR'. |
1 2 3 4 5 6 7 8 9 | ## Not run:
variantCalling(tumor_file = 'NET-10_TI_mkdup_sub_0005.bam',
normal_file = 'NET-10_BL_mkdup_sub_0005.bam',
sample_name = 'NET-10',
ref = 'hg38.fa',
out_path = 'processed/vcf',
threads = 2)
## End(Not run)
|
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