Understanding large scale sequencing datasets through changes to protein folding
David Shorthouse,
Harris Lister,
Gemma S Freeman
et al.
Abstract:The expansion of high-quality, low-cost sequencing has created an enormous opportunity to understand how genetic variants alter cellular behaviour in disease. The high diversity of mutations observed has however drawn a spotlight onto the need for predictive modelling of mutational effects on phenotype from variants of uncertain significance. This is particularly important in the clinic due to the potential value in guiding clinical diagnosis and patient treatment. Recent computational modelling has highlighte… Show more
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