MAVIS: merging, annotation, validation, and illustration of structural variants.
Bioinformatics
; 35(3): 515-517, 2019 02 01.
Article
em En
| MEDLINE
| ID: mdl-30016509
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.
Texto completo:
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Bases de dados:
MEDLINE
Assunto principal:
Software
/
Genômica
/
Neoplasias
Limite:
Humans
Idioma:
En
Revista:
Bioinformatics
Assunto da revista:
INFORMATICA MEDICA
Ano de publicação:
2019
Tipo de documento:
Article
País de afiliação:
Canadá