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Insertions and deletions (indels) in coding sequences have been reported to be the result of one or more mutation processes, including DNA mispairing [ 14], crossover [ 15], transposition [ 16], and/or others [ 17].
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Sequence regions likely to evolve by a non-point mutation process, including low-complexity sequence and indels, were excluded in a manner that preserved the integrity of naturally occurring dinucleotides.
Mutational processes include gene duplication, point mutations and gene conversion e.g. [ 26, 33].
Recent genome-wide studies have further underlined the complexity of MB; heterogeneous mutations targeting processes including histone methylation and chromatin remodelling have been discovered, but these typically describe limited subsets of tumours and few additional recurrent mutations targeting specific genes and/or pathways have been identified [ 11- 15].
As DNA sequencing technologies continue to advance and the associated costs decline, more of these studies will likely be completed; however, in the absence of functional annotation, it will remain a challenge to identify which mutations control specific processes, including cancer growth, progression and relapse.
The tempo and mode of the isochore landscape are dynamic yet influenced by several evolutionary, genetic, and population processes, including mutation rate, recombination, and population size (Eyre-Walker and Hurst 2001; Duret et al. 2006).
These observed genetic aberrations correspond to a diverse range of dysplastic metabolic processes, including mutations in genes encoding tricarboxylic acid (TCA) cycle enzymes, defects in hypoxic and antioxidant signaling, and abnormalities in nutrient-sensing phosphorylation cascades.
However, the epithelial cell transformation that occurs in common to these tumor types involves multiple processes, including mutations that enable conditions favorable for cancer cell survival, proliferation and migration.
Genomes of bacterial species can evolve through a variety of processes including mutations, rearrangements or horizontal gene transfer.
With the LightCycler 480 System, however, the entire mutation screening process, including post-PCR analysis, can be performed using a single instrument.
Functional LOH can be caused by a number of processes including spontaneous mutation, mitotic crossovers events, chromosome loss, chromosome breakage, and heterochromatin spreading that reduces gene expression.
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