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References in periodicals archive ?
(2) Conversely, the frequency of chromosomal copy number changes is significantly less in benign tumors and, when present, these changes typically involve very limited and/or specific chromosomal loci.
MS-MLPA certainly requires a relatively longer hands-on time (estimated at 10 min for the first day of hybridization setup and 45 min on the second day to finish digestion/ligation before the PCR and fragment analysis), but it analyzes multiple loci simultaneously and uses multiple built-in reference genes in the same reaction/sample/run, making the data-analysis portion of the assay relatively easy and robust for assessing both DNA methylation status and copy number change. Second, although this 1-step, single-tube qPCR assay has been proposed for measuring the mosaicism percentage, it has not addressed fully the calculation of mosaicism.
The laboratory that reported those results only reported a positive result if 2 or more adjacent BAC clones showed a consistent copy number change, and there may have been some technical limitation with 1 of the probes in that region or with performing or interpreting that array.
Mitochondrial DNA copy number changes in human gliomas.
This report and others have demonstrated that NGS technology has matured and now provides a reliable method for the detection of a variety of somatic alterations in cancer, including single-nucleotide variants, insertions and deletions, copy number changes, and structural variants.
Schwartz, "Algorithms to model single gene, single chromosome, and whole genome copy number changes jointly in tumor phylogenetics," PLoS Computational Biology, vol.
In this case, we found complex rearrangements involving chromosomes 8, 17 and 19p with the hallmarks of chromothripsis, the massive numbers of copy number changes with the lower and the higher copy number state on chromosome 8 were the typical appearances of chromothripsis.
This is especially important to researchers who investigate "C class" tumours, which are characterised by functional copy number changes as opposed to somatic mutations.
In mouse, one study reported that the expression of genes within CNVs show moderate correlations with copy number changes (Henrichsen et al., 2009b), and another study reported that 83% of genes within CNVs were differentially expressed (Orozco et al., 2009).
We have recently detected several genomic copy number changes among OSCC cases [7].