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DESCRIPTION
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DESCRIPTION
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Package: CNAqc
Type: Package
Title: CNAqc - Copy Number Analysis quality check
Version: 1.0.0
Author: Giulio Caravagna
Maintainer: Giulio Caravagna <[email protected]>
Authors@R: c(
person("Giulio", "Caravagna", , "[email protected]", role = c("aut", "cre"),
comment = c(ORCID = "0000-0003-4240-3265")
),
person("Riccardo", "Bergamin", , "[email protected]", role = c("ctb")),
person("Nicola", "Calonaci", , "[email protected]", role = c("ctb")),
person("Salvatore", "Milite", , "[email protected]", role = c("ctb")),
person("Alice", "Antonello", , "[email protected]", role = c("ctb"))
)
Description: CNAqc is a package to provide a set of metrics to quality control (QC)
allele-specific Copy Number Alteration (CNA) calls, somatic mutations and tumour purity determined
from bulk sequencing assays. The package provides statistical measures to quantify the
concordance between mutation and CNAs, exploiting the combinatorial relation between allelic
imbalance in CNA segments and variant allelic frequencies (VAFs) of somatic mutations. Distinct
peak matching procedures for VAFs can be used to QC clonal and subclonal copy numbers.
Quantitative metrics and plots for data exploration are also available, allowing for an intuitive
assessment of the goodness of somatic calls. QC metrics computed by CNAqc can also be used to
re-parametrize a copy number caller and increase the quality of the somatic calls; the Sequenza
tool is supported by the CNAqc with an automatica calling-QC pipeline. The tools is general and can
be applied downstream of any bioinformatics pipeline. Routines to determine Cancer Cell Franctions (CCFs)
for each mutation are also available, along with a model of CCF uncertainty that can be used to identify
high-quality CCF calls for downstream analyses.
License: GPL (>= 3) + file LICENSE
Encoding: UTF-8
LazyData: true
Depends:
R (>= 3.6)
biocViews:
Imports:
crayon,
ggpubr,
ggrepel,
BMix,
vcfR,
clisymbols,
RColorBrewer,
VariantAnnotation,
GenomicRanges,
easypar,
gtools,
graphics,
stats,
grDevices,
utils,
magrittr,
dplyr,
ggplot2,
cli,
tibble,
tidyr,
akima,
AnnotationDbi,
cowplot,
ggsci,
peakPick,
progress,
readr,
R.utils,
ComplexHeatmap,
scales
Remotes:
caravagn/pio,
caravagnalab/BMix,
caravagn/easypar,
cran/peakPick,
cran/sequenza
RoxygenNote: 7.2.3
Suggests:
knitr,
rmarkdown,
org.Hs.eg.db,
Organism.dplyr,
mclust
VignetteBuilder: knitr
URL: https://github.com/caravagnalab/CNAqc
BugReports: https://github.com/caravagnalab/CNAqc/issues