Calls SNPs and short INDELs for one or more diploid individuals.
You can provide your own reference sequence in FASTA format or choose one of the provided reference genomes. If you use the reference genomes provided by Chipster, please indicate the style of chromosome naming in your BAM file (e.g. chr1 or 1).
Alignment records are grouped by sample identifiers in @RG header lines. If sample identifiers are absent, each input file is regarded as one sample.
You can provide a coefficient for downgrading mapping quality for reads containing excessive mismatches. Given a read with a phred-scaled probability q of being generated from the mapped position, the new mapping quality is about sqrt((INT-q)/INT)*INT. A zero value disables this functionality. Applying this option usually helps BWA-short but may not other mappers. The recommended value for BWA is 50.
Maximum read depth should be adjusted to about twice the average read depth.
Output is a VCF file. You can view VCF files in Chipster as text (which includes the header) or spreadsheet (which can be shorted). The location column in the spreadsheet can be used in Chipster genome browser to navigate quickly through a list of variants.
This tool is based on the SAMtools package. Please cite the article The Sequence alignment/map (SAM) format and SAMtools by Li H., Handsaker B., Wysoker A., Fennell T., Ruan J., Homer N., Marth G., Abecasis G., Durbin R. and 1000 Genome Project Data Processing Subgroup (2009) Bioinformatics, 25, 2078-9. [PMID: 19505943].