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]>
Package repositoryView on GitHub
Installation Install the latest version of this package by entering the following in R:
hshdndx/new-to-CNV documentation built on May 17, 2019, 5:55 p.m.