A research team has used 454 sequencing systems and Nimblegen sequence capture arrays to build the complete genome and exome sequences from the oldest known human lineage.
In a study published online in 'Nature', a team of researchers from Penn State University and the University New South Wales presented the complete genome sequences of an indigenous hunter-gatherer from the Kalahari Desert and a Bantu from southern Africa, along with three additional whole exome sequences of Kalahari hunter-gatherers.
The four hunter-gatherer participants were chosen for their linguistic group, geographical location and Y-chromosome haplotype, while the Bantu individual is Archbishop Desmond Tutu of South Africa.
The study represents the first of its kind to analyse whole genome and exome sequence data from this genetically distinct population, which is thought to be the oldest known lineage of modern-day humans.
The findings, which include more than 13,000 novel SNPs, provide insights into human population diversity and may enable the future development of drugs that benefit this ethnic group.
The approach for generating and analysing the Kalahari hunter-gatherer whole-genome sequence presented in the paper is unique to other recently published Asian, Yoruban, and European individual genomes.
In order to generate the large amounts of high-quality data required for de novo assembly of a human genome, the researchers turned to the GS FLX System with long-read GS FLX Titanium Series chemistry.
Stephan C Schuster, lead author and professor of biochemistry and molecular biology at Penn State University, said: 'The long reads were critical to identifying the full range of genetic variation in this unique population.
'In the end, we were able to generate the complete sequence of one Kalahari Bushman genome at 10-fold coverage, using both shotgun and 17Kb span paired-end reads, as well as the protein-coding regions of all five participant's genomes at 16-fold coverage using target enrichment with Nimblegen Sequence Capture arrays,' he added.
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.
