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Integrative Human Genomics Program

Overview

This program supports research that integrates how human genetic variation affects the coordination of molecular, cellular, and physiological networks underlying higher-order functions and emergent properties of neurobiological systems. Topic areas of research include creating human molecular reference maps from defined cell types and circuits as well as elucidating the relationship between genomic features, such as gene regulatory elements and chromatin structure, and the spatiotemporal dynamics of gene and protein expression in healthy and diseased individuals.

Areas of Emphasis

  • Assembly of reference, multi-omic molecular maps (e.g., epigenomic, transcriptomic, proteomic) across development, regions, and cell types of the human brain.
  • Mapping of quantitative trait loci (e.g., expression, methylation, histone acetylation, chromatin accessibility, etc.) across development, regions, and cell types of the human brain.
  • Identifying the developmental periods, signaling pathways, cell types, and neural systems driving disease pathogenesis in humans.

Contact

Jonathan Pevsner, Ph.D.
6001 Executive Blvd.
301-728-5618, jonathan.pevsner@nih.gov