Functions Walter Matreyek Pdf Download ((NEW)) 👌
Functions Walter Matreyek Pdf Download ((NEW)) 👌
Functions Walter Matreyek Pdf Download
scientists may disagree with our judgment that a function is essential to the function of a protein, and they may hold other views about which functions are most essential. therefore, we recognize that some maves may not be used as primary metrics for variant effect. however, we do not recommend that maves are used in the absence of other data supporting the predicted effect of a variant on function, such as in vitro or in vivo functional assays or patient phenotype data. other information may also be useful to provide support for such predictions.
that said, many functional assays are available and public databases continue to grow. most maves and pipelines can be completed in a matter of days and are thus not a major computational burden. this is particularly true of protein-centric pipelines. moreover, many of the functions used to characterize a variant are amenable to integration into existing pipelines, further improving their utility for downstream users. such tasks as automated curation of textual information from the lovd or clinvar databases and uploading of variant effect annotations to the lovd or clinvar databases are also often part of the pipeline. because these tasks are already part of the existing pipeline processes, the execution of these functions will not add significantly to the pipeline time, and the resulting maves can still be used for clinical interpretation. however, for some pipelines, such as protein-centric pipelines, more time will likely be needed to perform these tasks and the interpretation of the pipeline outputs will be less likely to be made available to clinical interpretations using the pipeline.
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