Hello,
I'm have used Paired parent specific circular binary segmentation (PSCBS) to segment copy number calls made from SNP6 data and obtain copy numbers as well as LOH calls. I'm however having trouble interpreting some of the columns in the segmentation file. (tcnNbrOfLoci, tcnNbrOfSNPs, tcnNbrOfHets, dhNbrOfLoci). I'm unable to find the documentation that clarifies what these columns mean. I'll be grateful for any information on these columns or directions to the appropriate documentation.
I have also attached an snippet of the actual segmentation file for clarification.
Thanking You, Vakul
chromosome tcnId dhId start end tcnNbrOfLoci tcnMean tcnNbrOfSNPs tcnNbrOfHets dhNbrOfLoci dhMean c1Mean c2Mean rohCall abCall lohCall ntcnCall
1 1 1 61736 356493.5 29 2.0454 0 0 0 NA NA NA NA NA NA TRUE
1 2 1 356493.5 41027889.5 22688 1.5614 3209 3209 3209 0.0956 0.70606508 0.85533492 FALSE FALSE FALSE TRUE
1 3 1 41027889.5 41666838.5 354 1.7366 45 45 45 0.111 0.7719187 0.9646813 FALSE FALSE FALSE TRUE
1 answer
The reference manual and two example code vignettes are on the CRAN page for PSCBS: https://cran.r-project.org/web/packages/PSCBS/index.html
The peer-reviewed paper is quite readable and explains the core concepts well, e.g. total copy number (TCN), runs of homozygosity (ROH), and how they're calculated. https://academic.oup.com/bioinformatics/article/27/15/2038/401729/Parent-specific-copy-number-in-paired-tumor-normal
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