Products/Services Used | Details | Operation |
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Mutagenesis Services> | 1006096 June 6, 2016 11 / 27 Functional Assessment of Genetic Variants with Outcomes Adapted to Clinical Decision-Making were generated by targeted mutagenesis (Genscript Company, Piscataway, NJ, USA) on inter- mediate plasmids. | Get A Quote |
Understanding the medical effect of an ever-growing number of human variants detected is a long term challenge in genetic counseling. Functional assays, based on in vitro or in vivo evaluations of the variant effects, provide essential information, but they require robust statistical validation, as well as adapted outputs, to be implemented in the clinical decision-making process. Here, we assessed 25 pathogenic and 15 neutral missense variants of the BRCA1 breast/ovarian cancer susceptibility gene in four BRCA1 functional assays. Next, we developed a novel approach that refines the variant ranking in these functional assays. Lastly, we developed a computational system that provides a probabilistic classificati... More