title: FILTUS: a desktop GUI for fast and efficient detection of disease-causing variants, including a novel autozygosity detector.
abstract: 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.
  
  
  
  FILTUS is written in Python and runs on Windows, Mac and Linux. Binaries and source code are freely available at http://folk.uio.no/magnusv/filtus.html and on GitHub: https://github.com/magnusdv/filtus Automatic installation is available via PyPI (e.g. pip install filtus).
  
  
  
  magnusdv@medisin.uio.no
  
  
  
  Supplementary data are available at Bioinformatics online.
authors.affiliation: Department of Medical Genetics, Oslo University Hospital and University of Oslo, Oslo N-0424.
authors.forename: Magnus D
authors.initials: MD
authors.lastname: Vigeland
authors.affiliation: Department of Research, Cancer Registry of Norway, Oslo N-0304, Norway.
authors.forename: Kristina S
authors.initials: KS
authors.lastname: Gjøtterud
authors.affiliation: Department of Medical Genetics, Oslo University Hospital and University of Oslo, Oslo N-0424.
authors.forename: Kaja K
authors.initials: KK
authors.lastname: Selmer
mesh_terms: D059472:Exome; D006801:Humans; D011381:Programming Languages; D012984:Software; D015053:Zygote
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