Canvas: versatile and scalable detection of copy number variants.
Bioinformatics
; 32(15): 2375-7, 2016 08 01.
Article
em En
| MEDLINE
| ID: mdl-27153601
ABSTRACT
MOTIVATION Versatile and efficient variant calling tools are needed to analyze large scale sequencing datasets. In particular, identification of copy number changes remains a challenging task due to their complexity, susceptibility to sequencing biases, variation in coverage data and dependence on genome-wide sample properties, such as tumor polyploidy or polyclonality in cancer samples. RESULTS:
We have developed a new tool, Canvas, for identification of copy number changes from diverse sequencing experiments including whole-genome matched tumor-normal and single-sample normal re-sequencing, as well as whole-exome matched and unmatched tumor-normal studies. In addition to variant calling, Canvas infers genome-wide parameters such as cancer ploidy, purity and heterogeneity. It provides fast and easy-to-run workflows that can scale to thousands of samples and can be easily incorporated into variant calling pipelines. AVAILABILITY AND IMPLEMENTATION Canvas is distributed under an open source license and can be downloaded from https//github.com/Illumina/canvas CONTACT eroller@illumina.com SUPPLEMENTARY INFORMATION Supplementary data are available at Bioinformatics online.
Texto completo:
1
Coleções:
01-internacional
Base de dados:
MEDLINE
Assunto principal:
Software
/
Variações do Número de Cópias de DNA
/
Neoplasias
Tipo de estudo:
Diagnostic_studies
Limite:
Humans
Idioma:
En
Revista:
Bioinformatics
Ano de publicação:
2016
Tipo de documento:
Article