Description Details Author(s) References Examples
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
Package: | patternCNV |
Type: | Package |
Version: | 0.99.2 |
Date: | 2013-12-18 |
License: | Artistic-2.0 |
Depends: | methods, GenomicRanges, IRanges |
Chen Wang
Maintainer: Chen Wang <Wang.Chen@mayo.edu> or <topsoil.ustc@gmail.com>
PatternCNV: a versatile tool for detecting copy number changes from exome sequencing data (submitted)
1 2 3 4 5 6 7 | #=== load a simulation example
config.filename <- 'sim1.ini'
makeSimulation(config.filename)
sim.session <- createSession(config.filename)
#=== print summary information of created patternCNV session
summary(sim.session)
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