Life Technologies Corporation, a global biotechnology tools company dedicated to improving the human condition, announced the publication of two key scientific papers that highlight the utility of next-generation sequencing instruments in better understanding disease and the genetic differences that cause diversity within and between human populations. The Applied Biosystems SOLiD System was used in both of these research studies.

A paper in the journal Science Translational Medicine specifies that researchers demonstrated the application of next-generation sequencing to identify chromosomal abnormalities in solid tumours such as breast and colorectal cancer. The discovery, made by authors from the Johns Hopkins Kimmel Cancer Center and Life Technologies, demonstrates the potential to identify individual-specific biomarkers that may be useful to researchers in their development of future diagnostic products to monitor disease progression and tumour response to therapy. Entitled "Development of Personalized Tumour Biomarkers Using Massively Parallel Sequencing," the paper will appear in the February 24 edition of the journal.

Researchers used the SOLiD System to sequence DNA from six different tumour samples, two breast tumour samples and four colorectal tumour samples, along with matched normal tissue samples. They identified an average of nine different chromosomal abnormalities in each tumour sample that were not present in normal tissue, and these chromosomal abnormalities could be readily detected using polymerase chain reaction (PCR) in patient plasma samples.

In a separate paper, published in the February 18 edition of the journal Nature and titled "Complete Khoisan and Bantu Genomes from Southern Africa," scientists from a consortium of institutions that included Baylor College of Medicine and University of Pennsylvania performed sequence analysis on individuals descended from specific hunter-gatherer tribes of southern Africa, the oldest known lineage of modern humans. Included in this research was the sequencing of Nobel Peace Prize winner Archbishop Desmond Tutu's genome, using the SOLiD System. Archbishop Tutu's genome represents a mixture of southern African tribes and was compared to the hunter-gathers to better understand human diversity on a genetic level.

The study identified 1.3 million genetic variants that had not been previously observed, demonstrating that southern Africans are genetically quite distinct from Europeans, Asians and West Africans. In addition, it was shown that even within the hunter-gather tribes, more genetic diversity exists between these individuals than between Caucasians and Asians. As the genomes sequenced represent the first sequences of people from southern Africa, the data will contribute to the community's understanding of how rare genetic variations in southern Africans, and consequently other global populations, contribute to disease and possible treatments.

"Whole Human genome sequencing is clearly demonstrating its utility for unlocking the secrets to human diversity," said Richard Gibbs, Ph.D., Director of the Human Genome Sequencing Center at Baylor College of Medicine and an author on the Nature paper. "The speed and economics of current technologies are allowing scientists to amass data that gives us a broad understanding of both individual and rare genetic variations that impact human physiology and the development of diseases."

The SOLiD System is used by researchers globally in experiments to better understand the genetic nature of diseases such as cancer, diabetes, neurological disorders and other diseases. Its throughput, accuracy, speed and flexibility allow researchers to generate the data they need for their experiments and is contributing to the utility of sequencing as a potential clinical tool. Currently, the SOLiD System is for research use only, and is not intended for use in any diagnostic procedures.

"Technologies such as SOLiD are transforming how DNA sequencing is contributing to a more comprehensive understanding of human health," said Kip Miller, President of the Genetic Systems Division for Life Technologies. "The affordability and accuracy of the SOLiD System has made genome-wide sequencing a commonplace tool for scientists, and it has a real potential to become an integral part of genomic-based health decisions."