Variant Effects Program
Interpreting the landscape of human genetic variation
Many rare human diseases and some forms of common diseases such as heart disease and cancers, are linked to one’s genetic make-up. Changes in the genetic sequence or “genetic variants” can influence disease risk, drug response, and overall health. However, most genetic variants remain uncharacterized, making clinical interpretation challenging.
New technologies developed by Brotman Baty Institute (BBI), now allow us to analyze, measure and model the functional consequences of genetic variants at scale. Applying these technologies to understand what variants do molecular and cellular functions of genes is crucial to “precision medicine,” a personalized approach to disease prevention and treatment.
BBI has made these efforts a significant priority of the institute. Our Variant Effects Program aims to improve care for patients by building a comprehensive collection of variant effect data or “maps” and enabling physicians incorporate this data into their clinical practices.
Our current initiatives include:
Center for the Multiplex Assessment of Phenotype (CMAP):Developing new methods to assess genetic variation
Center for Actionable Variant Analysis (CAVA): Measuring variant function at scale
Expanding Clinical Use of Variant Data: Translating complex data into practical applications for patient and healthcare providers
Rare Variant Exploration: Unlocking insights into rare genetic variants that shape individual health outcomes
Atlas of Variant Effects (AVE) Alliance: Assembling an "Atlas of Variant Effects" through global collaboration
As we map more variants, we are helping:
- Improve genetic testing accuracy
- Enable targeted therapies
- Enhance disease prediction and prevention
- Support drug discovery and development
Together, our initiatives form a powerful framework to empower researchers, clinicians, and patients with knowledge that transcends the complexities of genetic variation. Join us in shaping the future of personalized medicine—where every variant tells a story, and every story leads to helping patients.
Interested in supporting our work? Reach out to us at info@brotmanbaty.org
You can also donate here directly
Additional Resources:
BBI-CVD: hub connecting researchers studying rare disease genetics with clinicians applying precision genomics to care for patients with rare diseases
MaveDB: open-source, public repository for datasets from Multiplexed Assays of Variant Effect (MAVEs)
MaveRegistry: Collaborative resource for sharing progress on Multiplexed Assays of Variant Effect (MAVE).
Further Reading:
- Introduction to Deep Mutational Scanning (Animation)
- Variants and Us (VUS) Podcast
- Researchers, Clinicians, Funders Create Roadmap for Clinical Atlas of Variant Effects by 2030
- An Atlas of Variant Effects to understand the genome at nucleotide resolution.
For more information, please contact:
Program Manager, Lara Muffley at muffley@uw.edu
Lead PI: Lea Starita at lstarita@uw.edu
Lead PI: Doug Fowler at dfowler@uw.edu
