Bioinformatics Seminar
Time:
Venue: Na
2 April 2019
NaClinical applications for high-throughput functional assay data
Alan RubinWEHI Bioinformatics
Most missense variants discovered in clinical sequencing studies do not have known impact and are classified as variants of uncertain significance (VUS). To improve clinical variant annotations and fulfil the promise of clinical genomics ; functional assays are needed. Multiplex Assays of Variant Effect (MAVEs) ; such as deep mutational scans and massively parallel reporter assays ; test thousands of sequence variants in a single experiment. We recently released MaveDB ; the first purpose-built database for MAVE data ; which currently contains over a million variant scores across 39 targets and continues to grow. This talk will focus on new applications ; including machine learning models ; built on MaveDB that will help maximize the clinical utility of these powerful variant effect maps.;