Fig. 3: Detecting positive selection and timing of mutation acquisition. | Nature Communications

Fig. 3: Detecting positive selection and timing of mutation acquisition.

From: Convergent somatic evolution commences in utero in a germline ribosomopathy

Fig. 3

a Number of nonsynonymous mutations in the four genes under significant positive selection (ratio of normalised nonsynonymous mutations (dN) to normalised synonymous mutations (dS) dN:dS > 1, q < 0.01). b Proportion of cells per individual carrying driver mutations classified by gene and chromosomal abnormality. CH genes associated with clonal haematopoiesis, CNA copy number alteration. c Timing of division of the most recent common ancestor (MRCA) of clonal expansions (clade comprising 2 or more colonies) harbouring driver mutations. This gives the latest time point (together with 95% credibility interval) by which the driver mutation was acquired as represented by the inferred timing of the end of the shared branch, but it is possible that the driver mutation occurred at any time along the branch that harbours the driver mutation. The top panel illustrates the diversity of timings within a single individual (SDS5) and the bottom panel shows the timing of all the identified driver based expansions in the full cohort (including SDS5) with the exception of SDS8. A total of 14 branches harbouring driver mutations from the cohort are timed for their latest age of acquisition. The bars span the 95% credibility interval of the MRCAs. Source data are provided as a Source Data file.

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