- A statistical model for the analyzed sample and
- A model for the sequencing errors.
The Low Frequency Variant Detection tool has one parameter (figure 27.17):
- 'Required Significance': this parameter determines the cut-off value for the statistical test for the variant not being due to sequencing errors. Only variants that are at least this significant will be called. That means that, the lower you set this cut-off, the fewer variants will be called.
The Low Frequency Variant Detection tool is suitable for analysis of samples of mixed tissue types (such as cancer samples) in which low frequent variants are likely to be present, as well as for samples for which the ploidy is unknown or not well defined. The tool also calls more abundant variants, and can be used for analysis of samples with ploidy larger than four. Note that, as the tool looks for all variants, abundant as well as low frequency ones, analysis will generally be slower than those of the other variant detection tools. In particular, it will be very slow, and possibly prohibitively so, for samples with extremely high coverage, or a very large number of variants (as in cases where the sample differs considerably from the reference).