Create an Expected Normal Ploidy Buffer filter chain
Mosaic analysis workflows can increase the frequency of false positives around normal ploidy, which is 2N for autosomes and the X chromosome in females, or 1N for sex chromosomes in males. You can create an Expected Normal Ploidy Buffer (ENPB) filter chain and add it to an analysis workflow to filter false positives in these analyses.
When you create the filter chain, you can adjust the range values when to customize the amount of buffer. For more information about the filter, see Expected normal ploidy buffer filter.
- In the Workflows tab, click Presets.
- Click .
- In the Create Filter Chain dialog box, select the dropdown list of filter chains, and enter Expected to find, then select the Expected Normal Ploidy Buffer filter chain.
- Set the filter chain values and settings.
- Enter a name and, optionally, a description.
- Click Save.
The ENPB filter chain can now be added to a mosaic analysis workflow. When an analysis is launched with the analysis workflow, the ENPB filter chain filters for false positives. For more information, see Add a filter chain to an analysis workflow, Create a custom analysis workflow for mosaicism, No Gender, or different tile sizes, and Launch an analysis.