SNPchip: R classes and methods for SNP array data.

TitleSNPchip: R classes and methods for SNP array data.
Publication TypeJournal Article
Year of Publication2007
AuthorsScharpf RB, Ting JC, Pevsner J, Ruczinski I
JournalBioinformatics (Oxford, England)
Volume23
Issue5
Pagination627-8
Date Published2007 Mar 1
Abstract

High-density single nucleotide polymorphism microarrays (SNP chips) provide information on a subject's genome, such as copy number and genotype (heterozygosity/homozygosity) at a SNP. While fluorescence in situ hybridization and karyotyping reveal many abnormalities, SNP chips provide a higher resolution map of the human genome that can be used to detect, e.g., aneuploidies, microdeletions, microduplications and loss of heterozygosity (LOH). As a variety of diseases are linked to such chromosomal abnormalities, SNP chips promise new insights for these diseases by aiding in the discovery of such regions, and may suggest targets for intervention. The R package SNPchip contains classes and methods useful for storing, visualizing and analyzing high density SNP data. Originally developed from the SNPscan web-tool, SNPchip utilizes S4 classes and extends other open source R tools available at Bioconductor. This has numerous advantages, including the ability to build statistical models for SNP-level data that operate on instances of the class, and to communicate with other R packages that add additional functionality.

DOI10.1371/journal.pone.0064024
Alternate JournalBioinformatics