Translating MAVE Outputs into Clinical Results

This white paper discusses the process of translating Multiplex Assays of Variant Effect (MAVEs) outputs into clinically meaningful results for variant classification. It outlines the historical context of functional studies and the evolution of MAVEs, which allow for high-throughput analysis of variants, significantly improving the resolution of genetic diseases. The document details the steps necessary to calibrate functional scores and correlate them with clinical phenotypes to ensure accurate variant classification. It emphasizes the importance of collaboration between researchers and laboratories in utilizing MAVE data effectively. The paper also highlights the impact of MAVEs on reducing the rates of variants of uncertain significance (VUS) and improving clarity in genetic testing. Overall, it presents a comprehensive approach to integrating MAVE outputs into clinical practices, aiming to enhance the accuracy of variant assessments and classifications.