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- Title
MAVIS: merging, annotation, validation, and illustration of structural variants.
- Authors
Reisle, Caralyn; Mungall, Karen L; Choo, Caleb; Paulino, Daniel; Bleile, Dustin W; Muhammadzadeh, Amir; Mungall, Andrew J; Moore, Richard A; Shlafman, Inna; Coope, Robin; Pleasance, Stephen; Ma, Yussanne; Jones, Steven J M
- Abstract
Summary Reliably identifying genomic rearrangements and interpreting their impact is a key step in understanding their role in human cancers and inherited genetic diseases. Many short read algorithmic approaches exist but all have appreciable false negative rates. A common approach is to evaluate the union of multiple tools increasing sensitivity, followed by filtering to retain specificity. Here we describe an application framework for the rapid generation of structural variant consensus, unique in its ability to visualize the genetic impact and context as well as process both genome and transcriptome data. Availability and implementation http://mavis.bcgsc.ca Supplementary information Supplementary data are available at Bioinformatics online.
- Subjects
GENETIC disorders; CANCER genetics; TRANSCRIPTOMES; BIOINFORMATICS; GENOMICS
- Publication
Bioinformatics, 2019, Vol 35, Issue 3, p515
- ISSN
1367-4803
- Publication type
Article
- DOI
10.1093/bioinformatics/bty621