Breakthrough in Human Genome Sequencing

Applied Biosystems has announced that its research and development scientists used human disease samples from the Baylor College of Medicine Human Genome Sequencing Center to sequence an entire human genome in a single run at 17-fold coverage using the SOLiD 3 System, the only next-generation advanced genomic analysis platform to achieve this milestone to date. Data from these unprecedented throughput and sequence coverage projects was presented by the HGSC at the Cold Spring Harbor Laboratory Biology of Genomes meeting in New York.

Scientists at the HGSC are currently equipped with 10 SOLiD Systems, and are using them for a variety of human disease research programmes, spanning cancer and genetic disorders. As part of two research projects, the SOLiD technology, equipped with new bead finding and quantitation genomic analysis software, was utilised to perform two sequencing runs. The mate pair run, which contained a sample from a genetic disorder, generated 50 billion mappable bases, or 17-fold sequence coverage of the human genome, which is comprised of approximately 3 billion bases. The second was a fragment run, which contained a sample from a brain cancer patient, and yielded 30 billion mappable bases, or 10-fold sequence coverage of the human genome. Ultra-high throughput genomic analysis systems, such as the SOLiD 3 System, will enable scientists to create a catalogue of single nucleotide polymorphisms and structural variants, or multi-base changes resulting from DNA rearrangements, insertions or deletions. This kind of portrait of the genetic underpinnings of disease will help scientists to lay the groundwork for the molecular events that occur in the generation of diseases such as cancer.