DeNovoCheck is intended to be used for inheritance analysis in NGS tio data. For rare dominant Mendelian diseases, patient-parent trios are often used to reduce the number of candidate variants. The algorithm bases the inheritance prediction on the data available in the parental BAM files and allows for a fast and reliable selection of potential de novo variants.
Features
- Identify de novo variants in NGS trio data
- Command line parameters
- Properties file configuration
Categories
Bio-InformaticsLicense
GNU General Public License version 2.0 (GPLv2)Follow DeNovoCheck
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