Reducing Uncertainty in Genetic Testing with Saturation Genome Editing

Overview

Journal Med Genet

Publisher De Gruyter

Specialties Genetics
Medical Ethics

Date 2024 Jun 5

PMID 38836089

Authors

Phoebe Dace

Gregory M Findlay

Affiliations

Soon will be listed here.

Abstract

Accurate interpretation of human genetic data is critical for optimizing outcomes in the era of genomic medicine. Powerful methods for testing genetic variants for functional effects are allowing researchers to characterize thousands of variants across disease genes. Here, we review experimental tools enabling highly scalable assays of variants, focusing specifically on Saturation Genome Editing (SGE). We discuss examples of how this technique is being implemented for variant testing at scale and describe how SGE data for have been clinically validated and used to aid variant interpretation. The initial success at predicting variant pathogenicity with SGE has spurred efforts to expand this and related techniques to many more genes.

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