We explore cutting-edge technologies transforming genetic variant curation: multiplexed assays of variant effect (MAVEs).
Joining us are two leading experts in the field:
Together, they break down how these groundbreaking methods work, their advantages over traditional approaches, and their potential to advance precision medicine. From the challenges of interpreting MAVEs data to their role in reducing health disparities and resolving variants of uncertain significance (VUS), this episode offers a comprehensive look at the future of genomics.
Dr. Lea Starita is an Associate Professor in the Department of Genome Sciences at the University of Washington and the Co-director of Brotman Baty Advanced Technology Lab. She earned her Ph.D. from Harvard Medical School before coming to the University of Washington to train in functional genomics with Stan Fields and Jay Shendure.
Dr. Douglas Fowler is a Professor of Genome Sciences and an Adjunct Professor of Bioengineering at the University of Washington. Dr. Fowler is co-Director of the Center for the Multiplexed Assessment of Phenotype, an NHGRI Center of Excellence in Genome Sciences. He is also a founder and current co-chair of the Atlas of Variant Effect Alliance executive committee.
Key Topics Covered:
Resources:
Atlas of Variant Effects Alliance: Precision medicine at nucleotide resolution
Introduction to Deep Mutational Scanning (Animation)
An Atlas of Variant Effects to understand the genome at nucleotide resolution
Understanding haemophilia, one amino acid at a time
Will variants of uncertain significance still exist in 2030?
Mutational Scanning Symposium 2025 in Barcelona in May 2025
Impact of Genomic Variation on Function (IGVF) Consortium
N-Lorem developing ASOs for nano-rare diseases
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