454 Life Sciences and Baylor College of Medicine obtain complete human genome using massively parallel DNA sequencing.

454 Life Sciences and Baylor College of Medicine have published the complete DNA sequence and analysis of an individual human diploid genome, in a study reported in Nature. Co-author Dr Michael Egholm of 454 Life Sciences will be speaking at Nanotech Northern Europe 2008.

The genome was analyzed using the 454 sequencing technology to 7.4 redundancy, thus facilitating a detailed comparison against the publicly available reference human sequence.
“This project sets a high standard for the key metrics from next-generation sequencing projects,” said Dr. Richard A. Gibbs, Co-senior author on the Nature study and The Wofford Cain Professor, Department of Molecular and Human Genetics and Director, Human Genome Sequencing Center, Baylor College of Medicine.

“The number of genetic variants that were detected and the completeness of how much of the genome was characterized both show the high quality of the data. It replaces the Sanger sequencing methods. The 454 technology has improved even more since the project, and we are looking forward to carrying out more whole human genome sequencing projects with even better performance.”

Co-author Dr. Michael Egholm, 454 Life Sciences’ Vice President of R&D, remarked that “Our study proves that generating high-quality sequence from humans, quickly and affordably, is now feasible. This study is just one of several early milestones on our path to routine human sequencing”

Source: Business Wire