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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...

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Detalles Bibliográficos
Autores principales: Sakai, Ryo, Sifrim, Alejandro, Vande Moere, Andrew, Aerts, Jan
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Oxford University Press 2013
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
Descripción
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