Fig. 3
Signatures of DNMs and overlap of mutations with ExAC. a The distribution of de novo mutational signatures across all 1152 singleton candidate de novo mutations and 350 that overlap with ExAC. b Differences in context-specific mutation rate. y-axis: significance of the difference in proportion of 5ʹ CCG → CTG 3ʹ DNMs in 1152 mutations from the autozygosity data set (AZ) and 850 DNMs from the 1000 Genomes Project Complete Genomics trio data set (PJL) in comparison with 6948 mutations from the meta-analysis data set (MDNM) and variants private to Europeans in the 1000 Genomes Project (EURpriv). The combined p-value shows the result of meta-analysis of the AZ/MDNM and PJL/EURpriv comparisons. A comparison between private mutations in PJL and EUR in the 1000 Genomes Project population data set (PJLpriv) and (EURpriv), respectively is also shown. Significance of the difference in 747 DNMs from the Scottish Family Health Study (SFHS) is shown as a control; the size of the disk indicates the fold difference of the test as in the legend. c Proportion of mutations that are 5ʹ CCG → CTG 3ʹ for various whole genome data sets. The AZ data were adjusted for trinucleotide composition differences between exomes and whole genomes. PJLpriv variants show this increased context-specific mutation rate compared to both East Asians (ASNpriv) and Europeans (EURpriv) indicating that the increase is specific to Pakistanis
