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Penn Bioinformatics Forum – Peter Kharchenko, PhD
May 2, 2018 @ 3:00 pm - 4:30 pm
Peter Kharchenko, Ph.D.
Assistant Professor of Biomedical Informatics
Exploring human brain with single-cell transcriptional and epigenetic measurements
Single-cell genomic protocols provide powerful means for characterization of cell type and cell state composition in complex biological tissues. Human brain is by far the most complex organ, consisting of 100 billion spatially organized and functionally connected neurons, complemented by over a trillion other cells. In an effort to characterize major cell types of the human brain we used single-cell techniques to examine both transcriptional and epigenetic states in the adult human brains. Measuring gene expression and chromatin accessibility in >60,000 single cells from human adult visual cortex, frontal cortex, and cerebellum, we used computational methods to establish correspondence between different subpopulations of neuronal and non-neuronal cells. Integration of these data revealed regulatory elements and transcription factors that underlie cell-type distinctions, providing a basis for the study of complex processes in the brain, such as genetic programs that coordinate adult remyelination. We also mapped disease-associated risk variants to specific cellular populations, which provided insights into normal and pathogenic cellular processes in the human brain. This integrative multi-omics study demonstrates a more detailed approach for single-cell interrogation of complex organs and tissues.