Bioinformatics seminar

We explore the molecular characteristics of cells that carry “null alleles” in protein-coding genes, resulting in a diminished production of their corresponding proteins. Using human induced pluripotent stem cells (iPSCs), which may change into numerous cell types, we study how these inactive genes affect cellular functions across the cell types. With precise gene-editing techniques, we can selectively deactivate genes and subsequently analyze the resulting changes using advanced methodologies such as RNA sequencing, multi-omics, and imaging. These approaches combined help us understand each gene's role and the consequences of their inactivity. Our ultimate goal is to use these models to map the effects of “null alleles” throughout the human genome.

Central to this effort is the MorPhiC project, a collaborative initiative that unites multiple research centers to study “null alleles” in lab-grown cell systems. MorPhiC focuses on generating, organizing, and analyzing large datasets to catalog the molecular and cellular effects of gene knockouts for all human genes. This initiative provides a foothold understanding of how genes produce traits (phenotypes) as well as the connections between genes and regulatory components in biological pathways and networks, laying the way for future advances in human genome research.