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From this we conclude that the two breakpoints are located within distinct introns of the NBPF1 gene.
Looking at the position of the regions that code for the necessary protein domains, and considering the reading frames of the various exons involved, it becomes clear that an oncogenic fusion protein will only be generated if breakpoints are located within certain introns.
For all the inversions, the proximal breakpoints are located within the heterochromatin.
Here, we present two patients with unique de novo CCRs, of which several breakpoints are located within LCRs.
Although the great majority of these breakpoints are located within a segment of about 100 bp located around the MTC, there are still some cases with breakpoints out of the MTC [ 20].
a Size reflects minimum size, as breakpoints are located within flanking repetetive sequence b For homozygous deletion, no reads are present within region CNVs identified within high-risk breast and ovarian cancer genes targeted by this experiment.
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Further analysis showed that the four rearrangement breakpoints were located within the IS elements.
Genetic algorithms for recombination detection analysis also indicated that the putative breakpoints were located within the 2C domain.
The only events that disrupted the same genes in two tumors were translocations t(11 13)(q22.3,q12.11), which breakpoints were located within the genes SKA3 and DDX10.
Interestingly, the genetic map positions of the genes encompassed by the pericentromeric rearrangements showed that all inversion breakpoints were located within regions of very low recombination rates.
Thus, according to our model-based simulations, the observation of 519 breakpoints being located within 410 out of 10,000 genomic regions is most plausible when the occurrence of breakpoints is confined to only 7 10% of the genome.
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