FILTUS: a desktop GUI for fast and efficient detection of disease-causing variants, including a novel autozygosity detector

Bioinformatics. 2016 May 15;32(10):1592-4. doi: 10.1093/bioinformatics/btw046. Epub 2016 Jan 27.


FILTUS is a stand-alone tool for working with annotated variant files, e.g. when searching for variants causing Mendelian disease. Very flexible in terms of input file formats, FILTUS offers efficient filtering and a range of downstream utilities, including statistical analysis of gene sharing patterns, detection of de novo mutations in trios, quality control plots and autozygosity mapping. The autozygosity mapping is based on a hidden Markov model and enables accurate detection of autozygous regions directly from exome-scale variant files.

Availability and implementation: FILTUS is written in Python and runs on Windows, Mac and Linux. Binaries and source code are freely available at and on GitHub: Automatic installation is available via PyPI (e.g. pip install filtus).


Supplementary information: Supplementary data are available at Bioinformatics online.

MeSH terms

  • Exome
  • Humans
  • Programming Languages
  • Software
  • Zygote*