The study results were consistent with the belief that southern Africans are among the most divergent of all human populations. The researchers identified more SNPs in their genomes than in other individual human genomes sequenced to date, as well as thousands of novel SNPs. These results will be a rich resource for future work, providing many new candidate functional sites that have not been included in whole-genome association studies, said Vanessa Hayes, a project co-leader and Group Leader Cancer Genetics at the Children ™s Cancer Institute Australia for Medical Research at the University of New South Wales. Ultimately, we hope that these sequences will serve as an important cultural and genetic archive of this indigenous population, one of the last remaining hunter-gather societies.

This study exemplifies the power of the 454 Sequencing System to comprehensively analyze whole genomes or targeted regions to identify both known and novel variants. We applaud the research team for recognizing the importance of de novo assembly, particularly for this genetically distinct human population, said Michael Egholm, Vice President of R&D and Chief Technology Officer 454 Life Sciences. In this study, the combination of long GS FLX Titanium reads and NimbleGen Sequence Capture Exome arrays also allowed the researchers to obtain a high-resolution picture of the protein-coding regions of all five study participants, offering an economical alternative whole genome sequencing method.

SOURCE Roche