Saturation Genome Editing

The Saturation Genome Editing (SGE) team focuses on developing and applying functional genomics technology to the clinical assessment of variant effects with the goal of characterizing genetic variation identified by sequencing studies and its role in disease predisposition.

The SGE team aims to enhance their focus on genetic variation in genes associated with cancer predisposition, neurological disease and developmental disorders, as well as to broaden the spectrum of available cellular and biological systems that recapitulate genetic disease predisposition in vitro. Research by the Saturation Genome Editing team, led by the Advanced Technology Lab at the Brotman Baty Institute, brings together academic and clinical research experts to investigate and understand human genetic variation, evaluate its functional effect on disease predisposition, and help inform patient decision-making and medical provider follow-up. In seeking to fulfill the promise of precision medicine, the Advanced Technology Lab and Saturation Genome Editing team’s research exemplify our mission to improve systems for characterization, modelling and interpretation of human genomic variation revealed by both clinical and population based sequencing studies.

Included among these exciting projects are the Impact of Genomic Variation on Function (IGVF) and Genomics Research to Elucidate the Genetics of Rare diseases (GREGoR) projects, both NHGRI funded and carried out within larger collaborative consortia. Find out more at: https://igvf.org and https://gregorconsortium.org.