09 July 2020
Genetic snapshot of humanity
Published online 27 October 2016
Millions of base pairs of previously unseen human DNA added to current genetic databases.
Researchers working on the Simons Genome Diversity Project have released the most diverse set of whole genome genetic data yet from 300 individuals belonging to 142 diverse populations.
The samples bring in new genetic material not previously seen, adding 5.8 million base pairs of human DNA to the current databases, and confirming previous findings that sub-Saharan Africans exhibit the highest amount of genetic diversity.
Previous studies have focused on large populations, such as Europeans, missing the important genetic history contained in other smaller ones, explains geneticist Swapan Mallick of Harvard Medical School.
Even though the project sequences only 300 genomes, it has done as much sequencing as the Thousand Genomes Project, says Mallick, because of the depth of analyses performed in order to get very high quality data.
“By comparing pairs of genomes, we’ve demonstrated that modern humans began separating far earlier than the out-of-Africa dispersal, suggesting considerable structure in human populations going back over 100,000 years ago,” says Mallick.
The data also shows an increased number of mutations in non-Africans compared to Africans. This could have happened if non-African populations had children at a younger age or if they had more children.
The genetic resources developed by the project have been made available to the broader scientific community, and include software that significantly reduces the size of the data, therefore allowing analyses using a reasonably powerful laptop. “This has been done to enable our own work, not just for this dataset but for the many hundreds of genomes we expect to come online in the near future,” says Mallick.
Mallick, S. et al. The Simons Genome Diversity Project: 300 genomes from 142 diverse populations. Nature http://dx.doi.org/10.1038/nature18964 (2016).