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Hypoxia enhances Ano1-mediated ICl(Ca) density via increasing its expression, altering the ratio of its splicing variants, sensitivity to membrane voltage and to Ca2+.
To derive rates of variant prevalence from rates of condition prevalence, our calculations assume 100% penetrance, 100% identification of causative variants (sensitivity), and 100% specificity.
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The Common Target File allowed us to evaluate relative variant sensitivity without regard to platform-specific target design.
The variant sensitivity and accuracy are poor for early pulses, but was sufficient to identify the causal mutation in both retrospective patients examined.
The pulsed analysis opens up the possibility of a first clinical assessment of sequence variants in hundreds of relevant genes after only ~15 hours from the start of WGS, although the variant sensitivity and accuracy at this stage is quite poor.
We computed the four other schemes with variants of sensitivity analysis, and they revealed similar results.
In contrast, the levels of cell death with BKM120 (1 μmol/l) were similar in all three MCF7 cell line variants and sensitivity to RAD001 was lost in MCF7 LTED-R cells despite reintroduction of estrogen deprivation.
However, several other studies have already evaluated variant detection sensitivity with exome data and identified numerous factors that influence variant detection sensitivity including coverage, quality of alignment and mapping, duplicates, strand bias, and type of algorithm used [ 5, 27- 29].
By using model-based predictive GC tailored to patient-specific metabolic response, through identifying their respective time variant insulin sensitivity, safe and effective GC can be offered.
However, results of the present study suggest a correlation between the expression of a particular HAVCR1 splice variant and sensitivity to the ε-toxin.
Another limitation is that we did not study the impact of coverage on variant detection sensitivity.
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Justyna Jupowicz-Kozak
CEO of Professional Science Editing for Scientists @ prosciediting.com