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: