Fig. 3: Characteristics of somatic DDX41 variants in myelodysplastic neoplasia/acute myeloid leukemia (MDS/AML).
From: Refinement of the classification of DDX41 variants through analysis of aggregated clinical datasets
A The frequency of single DDX41 somatic variants observed alongside a germline DDX41 variant in 799 cases of MDS/AML. One case was excluded due to missing variant information. B The proportions of somatic DDX41 variant types among cases with or without a germline DDX41 variant. C, D The association between various somatic DDX41 variants and germline DDX41 variants in MDS/AML. Odds ratios (ORs) and 95% confidence intervals were calculated from a quasi-case-control study. Higher ORs indicate a higher prevalence of somatic variants among patients with MDS/AML who carry a germline DDX41 variant. Case counts represent the number of cases with each somatic variant type. E, F The correlation between the most prevalent germline DDX41 variants (occurring in at least 15 instances) and the types of somatic DDX41 variants.
