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The highest copy number segment harbored 12 genes, including GPC5, GPC6 and ABCC4.
Three separate comparisons between PPCD1 and wild-type DNA each identified a single increased copy number segment on Chromosome 2 (Figure 6).
We grouped each copy number segment into one of three log2-transformed CNC categories, disregarding the direction of change: low or no CNC (|CNC|<1.2), moderate CNC (1.2<|CNC|<1.8), and large CNC (|CNC|>1.8).
Larry Bird combines information on copy number segment calls using the HMM-based Birdseye, and SNP calls using the Birdseed applications within Birdsuite.
Normalized gene-level expression and copy number segment files from METABRIC were downloaded from the European Genome-phenome ArchivEGAEGA) with accession number EGAS00000000083.
Examples of continuous segmentation include methods that essentially average over quantitative probe values within a genomic region determined by the algorithm to be a copy number segment.
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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.
Copy number segments were obtained with the Agilent CGH Analytics software (v.3.4), using the ADM-1 algorithm and default settings [73].
Copy number segments for 426 cancer genes were predicted using the PICNIC algorithm [ 12].
Structural variants in association with copy number segments were sought to improve sensitivity of detection.
The PM + CN classifier additionally requires a table containing the copy number segments and their associated copy number calls.
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