Extended Data Fig. 4: Signature fractions across sample groupings.
Plots showing the fraction of genomic SNV fractions attributed to (a) signature S, (b) signature 1’, (c) signature 5’, and (d) signature 40’ across healthy and cancer samples, divided and filtered as described in Extended Data Fig. 3, methods, and diagramed in Extended Data Fig. 10. ‘All healthy clams’ refers to SNVs found in all 3 healthy clams in our data set, but not in the reference genome. (e) Fraction of mutations attributed to signature 1 across the whole genome (triangles, same data as shown in (b)) is shown compared to the fraction of signature 1 in coding regions alone (CDS, circles). Note that trinucleotide contexts of mutational opportunities are different in coding regions versus the full genome, which was factored into in the signature fitting process. Points indicate fitting estimate, while error bars display 95% confidence intervals of mutation fractions from fitting error of SNVs to the four mutational signatures. Number of total mutations for each SNV set can be found in Extended Data Fig. 3.
