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The pattern of epistatic interactions between the specific mutations is complex and dependent on environmental factors such as the presence and absence of drugs and the host cells used.
In contrast, reaching the global optimum on rugged landscapes is expected to be a function of the interactions between the specific mutations that become substituted, because fitness on complex landscapes is determined by the epistatic effects among combinations of mutations [27], [30], [31].
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[1] Although numerous mutations in the CF gene have been described, there is little correlation between the specific mutation in the CF gene and severity of pulmonary disease.
Consequently, typing efforts involving this gene have been directed primarily at demonstrating an association between treatment or prophylaxis failures and the specific mutations observed at this locus (16 – 16 ).
"We treat people with the specific mutation who may benefit," David Schenkein, the C.E.O. of Agios, told me.
A better understanding of the correlation between specific mutations and tumor biology could offer insight for developing more target-specific therapies for patients with retinoblastoma (Fig. 4).
33– 36 Interestingly, the clinical correlation between the presence of specific mutations and therapeutic response to TKIs is mirrored in cell lines and EGFR-transfected cells.
In a study from Russia, there appeared to be a correlation between the genotype and specific mutations conferring resistance to RIF [57].
However, there is currently no consensus due to the absence of correlation between specific mutations and clinical outcome, whether the initial choice of a MDR/XDR-TB drug regimen, pending the results of culture DST, should be based on the results of rapid molecular drug-resistance diagnosis.
In conclusion, our work contributes to the implementation of the available CPVT mutant models, which is mandatory for establishing a direct relationship between specific mutations and the observed functional effects, as well as determining potential side effects and is fundamental for validating such findings in the perspective of customized patient treatment.
The variation in the identity of driver mutations is in keeping with the stochastic nature of myeloid leukaemogenesis, yet the identifiable patterns of co-occurrence and mutual exclusivity between specific mutations hint respectively at molecular synergy and redundancy between them (The Cancer Genome Atlas Research Network, 2013).
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Justyna Jupowicz-Kozak
CEO of Professional Science Editing for Scientists @ prosciediting.com