CNVRanger: association analysis of CNVs with gene expression and quantitative phenotypes.
Bioinformatics
; 36(3): 972-973, 2020 02 01.
Article
em En
| MEDLINE
| ID: mdl-31392308
ABSTRACT
SUMMARY:
Copy number variation (CNV) is a major type of structural genomic variation that is increasingly studied across different species for association with diseases and production traits. Established protocols for experimental detection and computational inference of CNVs from SNP array and next-generation sequencing data are available. We present the CNVRanger R/Bioconductor package which implements a comprehensive toolbox for structured downstream analysis of CNVs. This includes functionality for summarizing individual CNV calls across a population, assessing overlap with functional genomic regions, and genome-wide association analysis with gene expression and quantitative phenotypes. AVAILABILITY AND IMPLEMENTATION http//bioconductor.org/packages/CNVRanger.
Texto completo:
1
Coleções:
01-internacional
Base de dados:
MEDLINE
Assunto principal:
Estudo de Associação Genômica Ampla
/
Variações do Número de Cópias de DNA
Tipo de estudo:
Risk_factors_studies
Idioma:
En
Revista:
Bioinformatics
Assunto da revista:
INFORMATICA MEDICA
Ano de publicação:
2020
Tipo de documento:
Article
País de afiliação:
Holanda