Weaving New Insights for the Genetic Regulation of Human Cognitive Phenotypes Bernard Mulvey, Joseph D. Dougherty Cell Volume 172, Issue 1, Pages 10-13 (January 2018) DOI: 10.1016/j.cell.2017.12.037 Copyright © 2017 Elsevier Inc. Terms and Conditions
Figure 1 A Complex Weaving of Data Types to Understand the Genomic Features of Human Cerebral Development (A–J) (A) From a developing human cortex, de la Torre-Ubieta et. al dissect two key regions, the cortical plate (containing immature neurons) and the germinal zone (containing progenitors such as ventricular and outer radial glia, as well as migrating neurons) and (B) identify open chromatin with ATAC-seq data. Combining this with (C) previously collected chromatin configuration data from the same regions and (D) RNA-seq allows the authors to define (F) high-confidence pairings of genes to distal regulatory elements and identify differential usage in progenitors and young neurons. They then leverage this data to (E) identify probable TFs regulating cerebral expansion and differentiation and (G) identify and functionally validate roles for novel enhancer elements. Further integrating (H) other brain epigenetic datasets and (J) human genetic-data linking regions of the genome to brain phenotype, they (I) report a data-based set of developmental and molecular factors (e.g., brain regions, developmental time points, transcription factors, regulatory elements, and target genes) through which genomic variants may influence cognitive traits and psychiatric disease risk. Cell 2018 172, 10-13DOI: (10.1016/j.cell.2017.12.037) Copyright © 2017 Elsevier Inc. Terms and Conditions