SEMINAR: Understanding the functional consequences of every single mutation in Your Favourite Gene

DR ALAN RUBIN
Senior Research Officer
Walter & Eliza Hall Institute (WEHI)

A central problem in genomic medicine is understanding the effects of individual DNA variants. Although their function can be explored in the lab, assessing variants individually is both time and resource intensive. Multiplexed Assays of Variant Effect (MAVEs) are a family of experimental techniques that allow researchers to measure all possible variants of a gene or other functional element at once.

This field has expanded dramatically in recent years and is poised to become an integral part of clinical variant interpretation. Since a wide community of scientists and clinicians use these data, the results must be reproducible, auditable and widely available.

This talk will focus on the computational biology and bioinformatics of MAVEs with an emphasis on deep mutational scanning (DMS), which targets protein-coding genes. Alan will cover the way DMS datasets are analysed and current efforts to build on our field-leading methods, as well as new machine learning applications for DMS score prediction and imputation. Alan will also describe MaveDB, the database of record for MAVEs, and upcoming improvements to the sharing of MAVE data for clinical use.

Dr Alan Rubin obtained his PhD in Genome Sciences from the University of Washington in 2014. He then joined Prof Tony Papenfuss’s lab in the WEHI Bioinformatics Division and is now a senior research officer and Co-Head of the WEHI Multiplexed Assay Technology Hub. Dr Rubin also serves on the executive committee of the Atlas of Variant Effects (AVE) alliance, which seeks to share knowledge and support coordination within the international MAVE community, and co-chairs the AVE Data Coordination and Dissemination workstream.