MAVIS: merging, annotation, validation, and illustration of structural variants
| Autor: | Daniel Paulino, Richard A. Moore, Karen Mungall, Yussanne Ma, Dustin Bleile, Andrew J. Mungall, Amir Muhammadzadeh, Steven J.M. Jones, Inna Shlafman, Stephen Pleasance, Caleb Choo, Caralyn Reisle, Robin J.N. Coope |
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| Rok vydání: | 2018 |
| Předmět: |
Statistics and Probability
0303 health sciences Computer science Process (engineering) 030302 biochemistry & molecular biology Computational Biology Structural variant Context (language use) Genomics Computational biology Biochemistry Genome Computer Science Applications Transcriptome 03 medical and health sciences Computational Mathematics Annotation Computational Theory and Mathematics Neoplasms Key (cryptography) Humans Molecular Biology Software 030304 developmental biology |
| Zdroj: | Bioinformatics. 35:515-517 |
| ISSN: | 1367-4811 1367-4803 |
| Popis: | 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. |
| Databáze: | OpenAIRE |
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