Mutational Scanning


  • Lea Starita

  • Doug Fowler

  • Jay Shendure

  • Andrew Stergachis


January, 2020- Present


News (3)


Variant Analysis

Interpreting the landscape of human genetic variation

A significant barrier to the practice of precision medicine is our inability to interpret genetic variation identified by genome sequencing. BBI investigators are applying Multiplexed Assays for Variant Effects, or MAVEs, to interpret the biological impact of variants. These assays enable measurement of the functional effects of all possible single-nucleotide variants in a target gene, offering a general, scalable way to resolve variants of uncertain significance.

BBI has various initiatives and activities toward solving variants of unknown significance. These include:

Center for the Multiplex Assessment of Phenotype (CMAP) >

Center for Actionable Variant Analysis (CAVA) >

Expanding Clinical Use of Variant Data >

Atlas of Variant Effects (AVE) Alliance >

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)

For more information, please contact Program Manager, Lara Muffley at