Which are the correct BWA-mem parameters suggested/required/tolerated by CNVKit ? Are -M and -a parameters ok ? Thx a lot
Which are the correct BWA-mem parameters suggested/required/tolerated by CNVKit ? Are -M and -a parameters ok ? Thx a lot
Referring to the BWA MEM docs for posterity: http://bio-bwa.sourceforge.net/bwa.shtml
Yes, secondary alignments created with -a and marked as such with -M will be handled appropriately by CNVkit, i.e. excluded from the read depth count. CNVkit calculates depth using pysam, which uses htslib internally, and will therefore handle alignments and pileups the same way as other standard-compliant tools like samtools and bwa.
Thx. May I also run BWA without any option ? (i.e. would it work to detect CNV by off-target reads ? or -a is required ? )
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Yes, it works either way. CNVkit will ignore secondary alignments if they are present.