Nature https://doi.org/10.1038/s41586-018-0461-z (2018).

Genome editing can be used to screen functional effects of variants of unknown significance (VUS), providing data for assessment of their impact on pathogenicity.

When sequencing disease genes to identify pathogenic variants, researchers often identify new mutations that have an unclear impact on disease.

A group of researchers from Seattle assessed the functional impact of nearly every single nucleotide variant in critical regions of the breast cancer tumor suppressor gene BRCA1 using saturation genome editing. Results from their analyses align with previous measures of pathogenicity and can be used for clinical interpretation of BRCA1 variants.