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FocalCall: An R Package for the Annotation of Focal Copy Number Aberrations
oleh: Oscar Krijgsman, Christian Benner, Gerrit A. Meijer, Mark A. van de Wiel, Bauke Ylstra
Format: | Article |
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Diterbitkan: | SAGE Publishing 2014-01-01 |
Deskripsi
In order to identify somatic focal copy number aberrations (CNAs) in cancer specimens and to distinguish them from germ-line copy number variations (CNVs), we developed the software package FocalCall. FocalCall enables user-defined size cutoffs to recognize focal aberrations and builds on established array comparative genomic hybridization segmentation and calling algorithms. To distinguish CNAs from CNVs, the algorithm uses matched patient normal signals as references or, if this is not available, a list with known CNVs in a population. Furthermore, FocalCall differentiates between homozygous and heterozygous deletions as well as between gains and amplifications and is applicable to high-resolution array and sequencing data. AVAILABILITY AND IMPLEMENTATION: FocalCall is available as an R-package from: https://github.com/OscarKrijgsman/focalCall . The R-package will be available in Bioconductor.org as of release 3.0.