Variants Calling

Task Name: snp

Call variants for an input assembly and a reference sequence using SAMtools mpileup and bcftools.

Parameters:

  • bam - Input sorted BAM file(s) [URL datasets]
  • ref - Input reference sequence [URL datasets]
  • wout - Output file with variations [String]
  • bN - A/C/G/T only [Boolean]
  • bI - List of sites [String]
  • ml - BED or position list file [String]
  • bg - Per-sample genotypes [Boolean]
  • mC - Mapping quality downgrading coefficient [Number]
  • bT - Pair/trio calling [String]
  • mB - Disable BAQ computation [Boolean]
  • me - Gap extension error [Number]
  • mE - Extended BAQ computation [Boolean]
  • bF - Indicate PL [Boolean]
  • vw - Gap size [Number]
  • m6 - Illumina-1.3+ encoding [Boolean]
  • bi - INDEL-to-SNP Ratio [Number]
  • bA - Retain all possible alternates [Boolean]
  • vD - Max number of reads per input BAM [Number]
  • md - Max number of reads per input BAM [Number]
  • mL - Max INDEL depth [Number]
  • va - Alternate bases [Number]
  • v2 - BaseQ bias [String]
  • vd - Minimum read depth [Number]
  • v4 - End distance bias [Number]
  • v3 - MapQ bias [Number]
  • Q - Minimum RMS quality [Number]
  • v1 - Strand bias [Number]
  • mQ - Minimum base quality [Number]
  • mq - Minimum mapping quality [Number]
  • bd - Min samples fraction [Number]
  • b1 - N group-1 samples [Number]
  • bU - N permutations [Number]
  • bG - No genotype information [Boolean]
  • mI - No INDELs [Boolean]
  • mo - Gap open error [Number]
  • mP - List of platforms for indels [String]
  • vp - Log filtered [Boolean]
  • bP - Prior allele frequency spectrum [String]
  • bQ - QCALL likelihood [Boolean]
  • mr - Pileup region [String]
  • bs - List of samples [String]
  • mh - Homopolymer errors coefficient [Number]
  • bt - Mutation rate [Number]
  • mA - Count anomalous read pairs [Boolean]
  • vW - A/C/G/T only [Number]

Example:

ugene snp --bam=test.bam --ref=test_ref.fa --wout=test_out.vcf