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

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Project Activity

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Categories

Bio-Informatics

License

GNU General Public License version 2.0 (GPLv2)

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Additional Project Details

Operating Systems

Cygwin, Linux, Mac

Languages

English

Intended Audience

Science/Research

User Interface

Command-line

Programming Language

Java

Related Categories

Java Bio-Informatics Software

Registered

2011-08-31