Shore qVar
From SHORE wiki
shore qVar computes consensus sequence, SNPs, indels and CNVs from alignments.
Command line options
Usage: shore qVar OPTIONS
Mandatory | ||
-n STRING | Name (any of species, strain, accession, project or any other ID) | |
-f STRING | Reference genome sequence from the IndexFolder, *.shore file | |
-i STRING[,...] | Merged map.list file(s) or shore directories. | |
-s STRING | Scoring matrix (found in shore/Analysis/scoring_matrix) | |
-o STRING | AnalysisFolder, will be created. | |
Assay type | ||
-g | Genomic (turned on by default) | |
-e | Exome enrichment (or any enrichment) assays | |
-t | Quantitative sequencing (RNA-seq, ChIP-seq, DNaseI-seq etc.) | |
Consensus prediction parameters | ||
-c INT | (Default: 1) | Minimum coverage to attempt consensus base calling (Ref or SNP) at a position. |
-d INT | (Default: 2) | Minimum allele coverage to attempt indel calling at a position. |
-C INT | (Default: 999999) | Maximum coverage to attempt consensus base/indel calling at a position. |
-r INT | (Default: 3) | Maximum repetitiveness (average hits) allowed for consensus base/indel calling. |
-q INT | (Default: 5) | Minimum base quality (low quality bases are masked before consensus base calling. |
-Q INT | (Default: 10) | Minimum consensus base/indel quality for reported calls. |
-a FLOAT | (Default: 0.2) | Minimum allele frequency of reported calls. |
-A INT | (Default: 2) | Minimum allele read support of reported calls |
-b INT | (Default: 4) | Core offset - do not trust the first and last -b positions of an alignment. |
Optional input files | ||
-E STRING | Segment wise (e.g. exon) mean coverage file produced by 'shore count'. | |
Consensus output | ||
-x | No CNV prediction (improves speed; always off for exome or transcriptome seq) | |
-y | Graphical output of statistics using R. | |
-v | Do not remove intermediate output files. |