Hello,

I am trying DNAcopy for a gene panel, as expected, it merges the consecutive exons that have similar logratios. The problem comes when an entire gene has signals of a CNV. In that case DNAcopy finds the start of the CNV, but it also reports the first coordinate of the next gene as abnormal (when it should not).

For example:

I have a gene that covers chr6:7542142-7586118 (24 exons). I found 16 consecutive exons with a deletion 7567581 to 7586118 (from exon 9 to 24).

The DNAcopy output is like:

chr6 7542142 7566604 8 1.0275

chr6 7567581 118879078 17 0.5682

Which includes the first exon (chr6:118879078) of the next gene, which has a normal copy number ratio. Does any know how can I avoid this?

Here is the code that I use:

  "library(DNAcopy)";
  "cn <- read.table(\"$ratiosRD\", header=F)"; 
  "CNA.object <-CNA( genomdat = cn[,$i], chrom = cn[,1], maploc = cn[,2], data.type = 'logratio')\n";
  "CNA.smoothed <- smooth.CNA(CNA.object)";
  "segs <- segment(CNA.object, verbose=0, min.width=2)";
  "segs2 = segs\$output";
  "write.table(segs2[,2:6], file=\"$segmented.$SAMPLES[$j].bed\", row.names=F, col.names=F, quote=F, sep=\"\t\")";