MAVIS: merging, annotation, validation, and illustration of structural variants.
Bioinformatics
; 35(3): 515-517, 2019 02 01.
Article
en 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:
1
Colección:
01-internacional
Banco de datos:
MEDLINE
Asunto principal:
Programas Informáticos
/
Genómica
/
Neoplasias
Límite:
Humans
Idioma:
En
Revista:
Bioinformatics
Asunto de la revista:
INFORMATICA MEDICA
Año:
2019
Tipo del documento:
Article
País de afiliación:
Canadá