Quality-based variant detection
Note: 'Basic Variant Detection' is the new version of the 'Quality-based Variant Detection' where the filtering options have been unified and extended.
The quality-based variant detection in Biomedical Genomics Workbench is based on the Neighborhood Quality Standard (NQS) algorithm of [Altshuler et al., 2000] (also see [Brockman et al., 2008] for more information). Using a combination of quality filters and user-specified thresholds for coverage and frequency, this tool finds all variants that are covered by aligned reads.
To run the variant detection:
Toolbox | Legacy Tools (
) | Quality-based Variant Detection (legacy) (
)
This opens a dialog where you can select mapping results (
)/ (
)/ (
) or RNA-Seq analysis results (
).
Clicking Next will display the dialog shown in figure 34.1
Figure 34.1: Quality filtering.
Subsections
- Assessing the quality of the neighborhood bases
- Significance of variant
- Ploidy and genetic code
- Reporting the variants