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DeNovoCheck

Inheritance analysis for NGS trio data

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.

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Usage

The follwoing pages provide information on how to install and use DeNovoCheck*.

• The [Test] section contains data and files, enabeling a quick set-up and testing of the software.
• The [README] of the latest release provides detailed documentation about settings and features.
• Answers to common problems will be listed in the [FAQ] section.
• The Tickets page provides the posibility to report bugs.
• Releases and other resources are available in the Downloads section.

*Please note that due to depencies on samtools this is currently limited to their supported platforms. (Windows Cygwin, Unix, Linux, Mac)

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Contact

• Project URL: https://sourceforge.net/projects/denovocheck/
• Developer contact: denovocheck@users.sourceforge.net
• Bug reporting: https://sourceforge.net/p/denovocheck/tickets/

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Developer

Joep de Ligt
UMC St Radboud
Genomic Disorders Nijmegen
http://www.genomicdisorders.nl/