| JMML | Juvenile myelomonocytic leukemia |
| RTK | Receptor tyrosine kinases |
| HSPCs | Haematopoietic stem/progenitor cells |
| MDS | Myelodysplastic syndromes |
| WHO | World Health Organization |
| ICC | International Consensus Classification |
| HSCT | Hematopoietic stem cell transplantation |
| WES | Whole-exome sequencing |
| BM | Bone marrow |
| SNVs | Single nucleotide variants |
| GATK | Genome Analysis Toolkit |
| BWA | Burrows–Wheeler Aligner |
| SNV | Single nucleotide variants |
| MAF | Mutation Annotation Format |
| KEGG | Kyoto Encyclopedia of Genes and Genomes |
| VAF | Variant allele frequencies |
| FDR | False discovery rate |
| NMF | Negative matrix factorization |
| SBS | Single-base substitution |