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
|Depends:||methods, GenomicRanges, IRanges|
PatternCNV: a versatile tool for detecting copy number changes from exome sequencing data (submitted)
1 2 3 4 5 6 7
Add the following code to your website.
For more information on customizing the embed code, read Embedding Snippets.