Hematopoietic heterogeneity in healthy donors quantified by scRNA-seq. CD34⁺CD38⁻ and CD34⁺CD38⁺ cells from 4 healthy donors (healthy 1-4) were sorted by surface-membrane markers and subjected to analyses. (A) The schematic pipeline consisting of 3 major analytic components: differentiation analysis with cells from healthy donors, identification and characterization of monosomy 7 cells with gene expression, and validation of monosomy identification with loss of reterozygosity (LOH). CNV, copy-number variation; CRE, chromosome relative expression; GATK, Genome Analysis Toolkit. (B) CD38 expression levels in CD34⁺CD38⁻ and CD34⁺CD38⁺ cells. Each dot represents a single cell. y-axis, batch-corrected gene expression levels. (C) Cumulative distribution of fold changes of expression of hematopoietic cell type signature genes between CD34⁺CD38⁻ and CD34⁺CD38⁺ cells. Each dot represents a gene. B-NK, B cell–natural killer cell precursor; CMP, common myeloid progenitor; ETP, earliest thymic progenitor; GMP, granulocyte-monocyte progenitor; MEP, megakaryocytic-erythroid progenitor; MLP, multilymphoid progenitor; ProB, pro–B cell. y-axis, cumulative distribution; x-axis, log (marker gene expression levels in CD34⁺CD38⁺ cells/marker gene expression levels in CD34⁺CD38⁻ cells). (D) t-distributed stochastic neighbor embedding (tSNE) plot of single-cell gene expression data. Single cells from 4 healthy donors (healthy 1-4) are represented by different symbols. Highly variable genes (1024) across all healthy donors were used in tSNE analysis.