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. 2026 Sep 18;14(5):583. doi: 10.3390/medsci14050583
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