Single cell genomics in acquired bone marrow failure syndromes

Abstract

Mechanistic studies of immune bone marrow failure are difficult due to the scarcity of residual cells, the involvement of multiple cell types, and the inherent complexities of hematopoiesis and immunity. Single cell genomic technologies and bioinformatic analyses allow extensive, multi-dimensional analysis of very limited number of cells. We review the emerging applications of single cell techniques, and early results related to disease pathogenesis: effector and target cell populations and relationships; cell-autonomous and non-autonomous phenotypes in clonal hematopoiesis; transcript splicing; chromosomal abnormalities; TCR usage, and clonality. Dense and complex data from single cell techniques provide insights into pathophysiology, natural history, and therapeutic drug effects.