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TrioVis: a visualization approach for filtering genomic variants of parent–child trios
Summary: 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...
Autores principales: | , , , |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
Oxford University Press
2013
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Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3702247/ https://www.ncbi.nlm.nih.gov/pubmed/23658417 http://dx.doi.org/10.1093/bioinformatics/btt267 |
Sumario: | Summary: 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. Availability: Executables, source code and sample data are available at https://bitbucket.org/biovizleuven/triovis. Screencast is available at http://vimeo.com/user6757771/triovis. Contact: ryo.sakai@esat.kuleuven.be |
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