Global ETD Search
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Showing 1 to 2 of 2 for “"Variant Effect Predictors"”.
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Computational Tools and Analyses for Improved Inference of Variant Effects
… With over 50% of clinically interpreted missense variants classified as “variants of uncertain significance” (VUSes), multiple approaches are needed to improve variant interpretation. Multiplexed assays of variant effect (MAVEs) can experimentally test nearly all possible missense variants in …
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Protein structural and functional consequences of missense mutations in the human cancer genome
… high coverage. As these resources grow, new variants get incorporated into the pool and older variants get updated annotations, further refining the quality of the information stored. Sometimes, however, the sequenced variants are of unknown significance, and they cannot be interpreted …