Cataloging our reportoire of cell types and defining the genetic circuits that generate them in development are fundamental goals of human biology. Single-cell molecular profiling technologies have emerged as a means of surveying cellular diversity in whole animals, including humans. We have contributed to efforts to construct a comprehensive molecular atlas of human cells. Analyses of gene expression and chromatin accessibility have revealed new cell types, and specialized patterns of gene regulation, insights about the cell type-specific regulation of human genes by noncoding DNA, cell type–specific enrichments of complex trait heritability, and variation in cell-type specific molecular profiles as a function of age and sex. Our hope and expectation is that these catalogs will serve as references maps for future studies into to basic human biology, disease pathogenesis, and the development of new therapies.

Our contibutions to the Human Cell Atlas have made in collaboration with the labs of Jay Shendure, Jun Cao, Darren Cusanovich, and Shin Lin.

Papers

Single-cell analysis of chromatin and expression reveals age- and sex-associated alterations in the human heart

A human cell atlas of fetal chromatin accessibility

A human cell atlas of fetal gene expression