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

install.packages("remotes")
remotes::install_github("hshdndx/new-to-CNV")