Hi,
I use BWA to align my WGS human data reads from illumina HiSeq2500 machine against GRCh38 as reference genome. Although BWA provide certain basic information about the mapping done (e.g. % of mapped reads etc) but Is there any software/tools which can provide me such information in greater details, kind of overall alignment quality matrix ?.
2 answers
BBMap supports extensive quality-related output histograms. For example:
bbmap.sh ref=hg19.fa in1=read1.fq in2=read2.fq mhist=mhist.txt ihist=ihist.txt ehist=ehist.txt qhist=qhist.txt qahist=qahist.txt indelhist=indelhist.txt
...and various others. That will generate the files mhist.txt, which shows the rates of match, substitution, insertion, deletion, and N at each base position; ihist, the insert size histogram; and so forth (they're documented in the shell script). They're all tab-delimited columns, so they're easy to plot in R or Excel.
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Will this help: https://broadinstitute.github.io/picard/picard-metric-definitions.html#CollectWgsMetrics.WgsMetrics