SBME Seminar: Towards a Context-Aware Atlas of Human Variant Effects – Dr. Frederick Roth

SBME Seminar: Towards a Context-Aware Atlas of Human Variant Effects – Dr. Frederick Roth

 
 
 
Seminar Abstract:
Although computational and experimental advances have enabled large-scale determination of sequence variant effects, the real-world impacts of pathogenic variants often depend on environmental or genetic context. For multiple human proteins, e.g., MTHFR and LDLR, I will highlight the potential for large-scale cell-based assays, carried out under different contexts, to model the human phenotypic impact of missense variants. I will also review computational variant effect predictors, describe a new way to assess performance that avoids ascertainment and circularity biases, and convey the need for predictors to become context aware. Together, I hope these topics will convey that a new field of context-aware variant effect mapping is emerging at the interface of experimental and computational biology.
 

Dr. Frederick Roth’s Biography
Roth trained in physics and biology at UC Berkeley, in biophysics at Harvard, and worked with two biotech companies. He has led research teams at Harvard Medical School, the University of Toronto, and now Chairs the Department of Computational and Systems Biology at the University of Pittsburgh. His team developed now-common computational methods to identify functional enrichment and transcription factor binding sites from transcriptome data, and carried out many analyses of protein and genetic networks. His group is now focused on large-scale mapping of dynamic protein interactions and on the context-dependent impacts of human sequence variation.
 
Location:
DMCBH 101 LT