FILTUS: a desktop GUI for fast and efficient detection of disease-causing variants, including a novel autozygosity detector.
other · Level V
Where this comes from
- Record sourced from PubMed, PMID 26819469.
- Also identified by DOI 10.1093/bioinformatics/btw046 and PMC identifier 4866527.
- Licence recorded as CC BY.
- The licence permits redistribution, so the abstract is shown in full and the full text is available from the publisher.
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.
Medical subject headings
- Zygote