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Copy number segments were obtained from the circular binary segmentation (CBS) algorithm [ 47] implemented in R package DNAcopy using default settings.
We manually identified copy number segments worthy of committee discussion and potential classification.
To estimate false negatives for sub-arm P/LP CNAs in WES (excluding iAMP 21 B-ALL samples), we took WGS copy number segments from CONSERTING in bed format and identified the segment overlapping or within the gene of interest.
In the case of GLI2 amplification in SJMB030020, the gene was split over several distinct amplified copy number segments so we used the gene co-ordinates themselves as our region of interest.
We next overlapped the Sequenza WES copy number segments bed file with our regions of interest and looked for any segment overlap requiring a log2-fold shift of ± 0.2 for gains and losses respectively in WES.
Copy number segments were obtained with the Agilent CGH Analytics software (v.3.4), using the ADM-1 algorithm and default settings [73].
Similar(38)
The highest copy number segment harbored 12 genes, including GPC5, GPC6 and ABCC4.
Copy-number segments were calculated using an approach similar to ExomeCNV (Sathirapongsasuti et al., 2011).
Number of segments is the number of unconnected segments in the image field.
The number of segments differs according to the species.
Calculate the number of segments.
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