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Chromothripsis is a complex event and what we are able to detect with array CGH is a snapshot of a final genomic configuration of DNA segments superimposed on the haploid genome, which reflects many breakage events [ 21].
The significance of unique genomic configuration remains elusive.
The unique genomic configuration of CDT2 and INTS7, though presumed as having a different genomic function, prompted us to investigate whether the CDT2-INTS7 interegion region could act as a bidirectional promoter, capable of coordinating the expression patterns of the two genes.
The distinctive genomic configuration observed in the CLL patient is stamped on these three cell lines.
It is unclear to what extent have natural selection, or functional requirements, shaped the genomic configuration for plant genes.
Taken together, these PCR results confirm the predominant genomic configuration for each species ("A" for J. monosperma and J. virginiana; "B" for J. bermudiana and J. scopulorum).
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Hence, even if some genomes are in two contigs or alternative genomic configurations, this will not forbid to use this distance as a measure of the synteny.
The unprecedented level of sequence information that will arise from the 1000 Genomes Project will also improve our knowledge of genomic configurations that were shaped by evolutionary processes.
Strict asexuality in specialised and adapted local populations would also help in the preservation of well-adapted genomic configurations [ 50].
Nucleosome occupancy is tightly linked to chromatin accessibility, and depends on the degree a genomic site is occupied by nucleosomes in all genomic configurations [ 56].
This observation corroborates the structural complexity of 8q24 and opens the possibility that different genomic configurations are associated with risk alleles in Region 1 or other 8q24 regions.
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Justyna Jupowicz-Kozak
CEO of Professional Science Editing for Scientists @ prosciediting.com