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
|Bioconductor views||CopyNumberVariants HighThroughputSequencing Sequencing Visualization|
|Maintainer||Chen Wang, <[email protected]> or <[email protected]>|
|Package repository||View on GitHub|
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