General Information
| Description | A desktop GUI for fast and efficient detection of disease-causing variants, including a novel autozygosity detector |
| Homepage | http://folk.uio.no/magnusv/filtus.html |
Publications
FILTUS: a desktop GUI for fast and efficient detection of disease-causing variants, including a novel autozygosity detector
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).
Contact:
magnusdv@medisin.uio.no
Supplementary information:
Supplementary data are available at Bioinformatics online.
Related Tools
TrioVis
Published May 2013
A visualization approach for filtering genomic variants of parent–child trios
QCGWAS
Published January 2014
A flexible R package for automated quality control of genome-wide association results
BCFtools/RoH
Published January 2016
A hidden Markov model approach for detecting autozygosity from next-generation sequencing data
FAIR Evaluation
Sorry, you must be signed in to evaluate this object.
