2012年9月23日星期日

consensus calls (SNP/Indel/Reference) from a mpileup file


http://varscan.sourceforge.net/using-varscan.html#v2.3_mpileup2cns



mpileup2cns

This command makes consensus calls (SNP/Indel/Reference) from a mpileup file based on user-defined parameters:
 USAGE: java -jar VarScan.jar mpileup2cns [mpileup file] OPTIONS
        mpileup file - The SAMtools mpileup file

 OPTIONS:
 --min-coverage Minimum read depth at a position to make a call [8]
 --min-reads2 Minimum supporting reads at a position to call variants [2]
 --min-avg-qual Minimum base quality at a position to count a read [15]
 --min-var-freq Minimum variant allele frequency threshold [0.01]
 --min-freq-for-hom Minimum frequency to call homozygote [0.75]
 --p-value Default p-value threshold for calling variants [99e-02]
 --strand-filter Ignore variants with >90% support on one strand [1]
 --output-vcf If set to 1, outputs in VCF format
 --variants Report only variant (SNP/indel) positions (mpileup2cns only) [0]

  
 OUTPUT
 Tab-delimited SNP calls with the following columns:
 Chrom  chromosome name
 Position position (1-based)
 Ref   reference allele at this position
 Var   variant allele observed
 PoolCall Cross-sample call using all data (Cons:Cov:Reads1:Reads2:Freq:P-value)
    Cons - consensus genotype in IUPAC format
    Cov - total depth of coverage
    Reads1 - number of reads supporting reference
    Reads2 - number of reads supporting variant
    Freq - the variant allele frequency by read count
    P-value - FET p-value of observed reads vs expected non-variant
 StrandFilt Information to look for strand bias using all reads, format R1+:R1-:R2+:R2-:pval
    R1+ = reference supporting reads on forward strand
    R1- = reference supporting reads on reverse strand
    R2+ = variant supporting reads on forward strand
    R2- = variant supporting reads on reverse strand
    pval = FET p-value for strand distribution, R1 versus R2
 SamplesRef Number of samples called reference (wildtype)
 SamplesHet Number of samples called heterozygous-variant
 SamplesHom Number of samples called homozygous-variant
 SamplesNC Number of samples not covered / not called
 SampleCalls The calls for each sample in the mpileup, space-delimited
       Each sample has six values separated by colons:
   Cons - consensus genotype in IUPAC format
   Cov - total depth of coverage
   Reads1 - number of reads supporting reference
   Reads2 - number of reads supporting variant
   Freq - the variant allele frequency by read count
   P-value - FET p-value of observed reads vs expected non-variant

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