Finding structural variation and functional consequences from primary acute myeloid leukemia cells with complex karyotype (CK-AML) at the single-cell level

In this study, we aimed to extend our understanding of the intra-tumor heterogeneity evolution in CK-AML and exemplify the translational relevance of single-cell clonal evolution analyses. To achieve this, we leveraged two single-cell multi-omics frameworks, scNOVA and CITE-seq, to link genotype, epigenome and phenotype of four primary CK-AML patients, and coupled this with functional xenotransplantation assays.EGA study EGAS00001007436