homogeneous ancestry within each subsample so that our analysis of singleton clustering patterns was not an artefact of admixed haplotypes; third, to limit the incidence of recurrent mutations at hypermutable sites, which can alter the underlying mutational spectrum of singleton SNVs in large samples94. Although the TOPMed Consortium sequenced individuals from several other diverse population groups (for example, Samoan, Hispanic/Latino individuals), the majority of these individuals were of admixed ancestry and the singletons from these smaller samples reflected mutations that have accumulated over a longer period of time, so the mutation spectra and genome-wide distributions of these samples would be more susceptible to distortion by other evolutionary processes such as selection and biased gene conversion31.
