Provides functions for estimating ploidy levels and detecting aneuploidy in individuals using allele intensities or allele count data from high-throughput genotyping platforms, including single nucleotide polymorphism (SNP) arrays and sequencing-based technologies. Implements an extended version of the 'PennCNV' signal standardization method by Wang et al. (2007) <doi:10.1101/gr.6861907> for higher ploidy levels. Computes B-allele frequencies (BAF), z-scores, and identifies copy number variation patterns.
Package details |
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Author | Cristiane Taniguti [cre, aut], Jeekin Lau [ctb], David Byrne [ctb], Oscar Riera-Lizarazu [ctb] |
Maintainer | Cristiane Taniguti <cht47@cornell.edu> |
License | AGPL (>= 3) |
Version | 1.0.1 |
URL | https://github.com/Cristianetaniguti/Qploidy |
Package repository | View on CRAN |
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