Fig. 2: Recurrent mutations across SDS haematopoietic phylogenies.

Phylogenetic trees of haematopoietic colonies for ten individuals with SDS. Each individual had between 10–100 colonies sequenced and included for phylogenetic analysis. Branches with somatic mutations in driver genes previously reported and/or under positive selection in this study are coloured. Branches with known driver mutations of clonal haematopoiesis are shown in black, and those associated with SDS in other colours. The branch harbouring the driver mutation is shown with a thicker coloured line. The Y-axis shows the total number of somatic mutations including driver mutations. Rows beneath phylogenetic trees show the specific driver mutations, with colonies harbouring that mutation more densely coloured. Of note, no known driver mutations were detected amongst the somatic mutations found in SDS1 and SDS3. *SDS8 was diagnosed with transformation to myelodysplasia with trilineage dysplasia 1 month before sampling. All SDS8 colonies had a complex karyotype with many chromosomal (Chr) copy number aberrations (CNA). CNAs confidently shared across SDS8 colonies are shown on the tree.