variantCalling: variantCalling

Description Usage Arguments Examples

View source: R/variantCalling.R

Description

Aligned and co-cleaned BAM files are processed as tumor-normal pairs. Variant calling is performed using six separate pipelines:

Usage

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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"
)

Arguments

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'.

Examples

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## 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)

msubirana/ergWgsTools documentation built on June 8, 2020, 8:07 a.m.