TrioVis: a visualization approach for filtering genomic variants of parent-child trios.
other · Level V
Where this comes from
- Record sourced from PubMed, PMID 23658417.
- Also identified by DOI 10.1093/bioinformatics/btt267 and PMC identifier 3702247.
- 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
TrioVis is a visual analytics tool developed for filtering on coverage and variant frequency for genomic variants from exome sequencing of parent-child trios. In TrioVis, the variant data are organized by grouping each variant based on the laws of Mendelian inheritance. Taking three Variant Call Format files as input, TrioVis allows the user to test different coverage thresholds (i.e. different levels of stringency), to find the optimal threshold values tailored to their hypotheses and to gain insights into the global effects of filtering through interaction. Executables, source code and sample data are available at https://bitbucket.org/biovizleuven/triovis. Screencast is available at http://vimeo.com/user6757771/triovis. ryo.sakai@esat.kuleuven.be.
Medical subject headings
- Genetic Variation
- High-Throughput Nucleotide Sequencing
- Sequence Analysis, DNA
- Software