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

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Abstract

Summary: 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 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).

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Vigeland, M. D., Gjøtterud, K. S., & Selmer, K. K. (2016). FILTUS: A desktop GUI for fast and efficient detection of disease-causing variants, including a novel autozygosity detector. Bioinformatics, 32(10), 1592–1594. https://doi.org/10.1093/bioinformatics/btw046

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