This knowledge enabled variants of this protein to be constructed that do not respond when exposed to acidic conditions or low levels of divalent cations.
We have shown, in contrast to in vitro studies, that co-employing the chromosome-integrated hMLH1 and hPMS2 genes in yeast not only enabled pathogenic MLH1 variants to be discriminated from polymorphisms that have no effect on MMR function, but also enabled variants resulting in reduced MMR activity to be identified and functionally classified.
Over time, Myriad's large centralized database enabled variants to be initially classified as VUS and then efficiently reclassified as being more likely to be deleterious or neutral - a testament to the utility of a large, well-curated, centralized database [ 2].
The use of 95% confidence intervals around the mean enables variant activities to be statistically compared.
In particular, refinements in the mapping of regulatory regions and other functional elements through functional studies, evolutionary conservation, and in silico models will be essential to enable variant interpretation beyond the coding exome.
This requires restructuring and/or reorganising measures to enable variants within the treatment pathway as a value creation process to be adapted to each individual patient and his illness, living conditions and preferences.
ISEA variants that were more elaborate also enabled ISEA variants to achieve the targeted attributes, but they were rejected because we strove to adhere to the guideline of parsimony.
Voice features should come to sites that cut a smaller swath, thanks to standards like VXML, a voice-enabling variant of the fast-growing Extensible Markup Language.
Identifying the specific genetic variants interacting with TZDs and resulting in edema or cardiovascular events may have important clinical consequences and enable genetic variant directed use of TZD drugs among people with dysglycemia.
Regier AA, Farjoun Y, Larson D, et al. Functional equivalence of genome sequencing analysis pipelines enables harmonized variant calling across human genetics projects.
This description enables multiple variant recipes to increase flexibility in a Service oriented Holonic Manufacturing System.
