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Finally, the last sub-process is the prioritization of variants.
Fig. 21 Activities of prioritization of variants activity.
In comparison with the work of (Pimentel et al. 2014), the main difference is that we address the system's context, the operationalization of the NFRs and prioritization of variants.
The prioritization of variants sub-process is useful for selecting which variant the system must adopt at runtime when more than one is variant is enabled at the same time.
We explored the idea that it is possible to modularize the development of CSS by organizing the GO2S process in six sub-processes considering the main activities in order to develop a context-sensitive system: requirements specification, context specification, the adaptation and monitoring, the definition of system's behavior, the statechart derivation and the prioritization of variants.
At the same time, HIA naturally allows the prioritization of variants for additional investigation.
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There has therefore been much interest in computational prioritization of candidate variants, both to accelerate the search for causal variants, and to provide insights into the biology underlying disease states.
In this study, we introduce an approach to the prioritization of regulatory variants within GWAS defined loci.
A number of different methods have been developed for the prioritization of causal variants to explain association signals.
The vast amounts of data available from whole genome sequencing represent a challenge in the analysis, often requiring automated methods for annotation and prioritization of the variants.
For further patient analyses, a more stringent threshold up to 35% of sequence reads might be used for prioritization of sequence variants.
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Justyna Jupowicz-Kozak
CEO of Professional Science Editing for Scientists @ prosciediting.com