Importantly, targeting exon sequencing of 96 genes performed in 648 cytopenic patients, among which 212 were diagnosed with MDS, showed that variant alleles frequency for seven genes, including SF3B1, U2AF1, and SRSF2, could correctly re-classify subjects as either MDS or other in 74% of cases that were misclassified. The gene discussed is SF3B1; the disease is myelodysplastic syndrome.