Category

Mutational Scanning

Researchers

  • Lea Starita

  • Doug Fowler

  • Jay Shendure

Date

January, 2020- Present

Links

News (3)

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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) >

Atlas of Variant Effects (AVE) Alliance >


For more information, please contact Program Manager, Lara Muffley at muffley@uw.edu