paperKB
coga / coga-kb
Help
Sign in

Chunk #9 — Patterns of protein-coding variation revealed by large samples

Source
Analysis of protein-coding genetic variation in 60,706 humans.
Embedded
yes

Text

at highly mutable sites can further be observed by examining the population sharing of doubleton synonymous variants (variants occurring in only two individuals in ExAC). Low-mutability mutations (especially transversions), are more likely to be observed in a single population (representing a single mutational origin), while CpG transitions are more likely to be found in two separate populations (independent mutational events); as such, site mutability and probability of observation in two populations is significantly correlated (r = 0.884; Figure 2d).