Non- protein coding regions, which encompass 97% of the human genome are overlooked by traditional human genetics association studies. As members of Project MinE and the NYGC ALS sequencing consortiums, we focus our efforts on developing computational methods to explore non-protein coding mechanisms, based on whole-genome sequencing data.
We use scalable base editing technologies, paired with single cell RNA sequencing readouts and deep organellar phenotyping to explain the biological consequences of thousands of genetic variants, reported in neurodegeneration. We orthogonally develop high-throughput transcriptomic-based single cell profiling and machine-learning supported microscopic phenotyping. We map the functional relationships of hundreds of neurodegeneration-associated alleles, across the entire neurodegeneration genetic landscape.
Collaborators: Jan Veldink and Project MinE ALS sequencing consortium (UMC Utrecht); Ammar Al-Chalabi (King's college); Bob H. Brown Jr.; John Landers (UMASS med.); Tsvia Olander, Eran Segal (Weizmann Institute of Science); John Cooper-Knock, Dame Pamela J Shaw (University of Sheffield). Michael Ward (NIH); Mike Snyder (Stanford); Pietro Frattta(UCL); Hemali Phatnani (NYGC / Columbia U.); Ophir Shalem (UPENN).