We explore cutting-edge technologies transforming genetic variant curation: multiplexed assays of variant effect (MAVEs).

Joining us are two leading experts in the field:

Dr. Lea Starita, Associate Professor at the University of Washington and Co-Director of the Brotman Baty Advanced Technology Lab.
Dr. Douglas Fowler, Professor of Genome Sciences and Co-Director of the Center for the Multiplexed Assessment of Phenotype.

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:

What are MAVEs, and why are they revolutionary for variant curation?
How MAVEs allow for simultaneous testing of thousands of genetic variants.
Real-world applications of MAVEs in understanding specific genes and conditions.
How MAVEs resolve VUS and accelerate precision medicine.
Ethical and practical considerations in moving MAVEs from research to clinical practice.
The role of collaboration and initiatives like the Atlas of Variant Effect Alliance in advancing the field.

Resources:
Atlas of Variant Effects Alliance: Precision medicine at nucleotide resolution

Variants and Us (VUS) Podcast

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

NIH’s ClinVar Database

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#325 Revolutionizing Variant Curation with MAVEs

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