hshdndx/new-to-CNV: patternCNV: a versatile tool for detecting copy number changes from exome-seq data

PatternCNV is a versatile tool to facilitate CNV detection and interpretation from either Germline or Tumor/Normal pairs of Exome-seq samples. The idea behind proposed patternCNV approach is to summarize common coverage trends of a same exome capture-kit, and then facilitate accurate CNV estimation. Across multiple control-samples (i.e. germline), we proposed to summarize average and variability of exon-coverage, defined as "average-pattern" and "variability-pattern", respectively. Then, exon-level CNV is reliably estimated by computing difference between observed read-depth and expected coverage

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Package details

AuthorChen Wang
Bioconductor views CopyNumberVariants HighThroughputSequencing Sequencing Visualization
MaintainerChen Wang, <[email protected]> or <[email protected]>
LicenseArtistic-2.0
Version0.99.2
Package repositoryView on GitHub
Installation Install the latest version of this package by entering the following in R:
install.packages("devtools")
library(devtools)
install_github("hshdndx/new-to-CNV")
hshdndx/new-to-CNV documentation built on May 16, 2017, 11:26 p.m.