eWGS (Fig. 1a) revealed that these cases were genetically representative of AML, containing on average 26 mutations within coding regions, with many in well-established driver genes (e.g. DNMT3A, FLT3, NPM1, TP53, NRAS, IDH1, CEBPA, etc.). The gene discussed is NPM1; the disease is acute myeloid leukemia.