Sammanfattning

A 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.

Nyckelord

Copy number variation (CNV); structural genomic variation; SNP-arrays; next-generation sequencing data

Publicerad i

Bioinformatics
2020, Volym: 36, nummer: 3, sidor: 972-973

SLU författare

• Da Silva, Vinicius

  • Institutionen för husdjurens biovetenskaper, Sveriges lantbruksuniversitet
    
  • Wageningen University & Research Centre

• Johansson, Anna Maria

  • Institutionen för husdjurens biovetenskaper, Sveriges lantbruksuniversitet
    

UKÄ forskningsämne

Bioinformatik (beräkningsbiologi)


Publikationens identifierare

DOI: https://doi.org/10.1093/bioinformatics/btz632

Permanent länk till denna sida (URI)

https://res.slu.se/id/publ/101819