With improvements in sequencing technology, low-frequency variation is becoming increasingly accessible. This greater resolution will no doubt expand our ability to identify genes and variants associated with disease and other human traits. This study integrates CNPs and lower-frequency SNPs with common SNPs in a more diverse set of human populations than was previously available. The results underscore the need to characterize population-genetic parameters in each population, and for each stratum of allele frequency, as it is not possible to extrapolate from past experience with common alleles. As expected, lower-frequency variation is less shared across populations, even closely related ones, highlighting the importance of sampling widely to achieve a comprehensive understanding of human variation.
