Figure 1: Whole-exome sequencing of three paired MDS at the lower and higher risk stages.

(a) The nucleotide substitutions for somatically acquired point mutations are shown in three paired MDS before and after disease progression. C→T/G→A transitions were the primary nucleotide changes. (b) Distribution of the numbers and categories of somatically acquired point mutations before and after disease progression. The number of nonsynonymous SNVs was predominant and increased after disease progression. (c–e) The altered allele frequency (Alt allele Freq.) of a series of gene mutations in three paired MDS before and after disease progression.