Lowering the Cost of Sequencing Human Genome

Applied Biosystems, an Applera Corporation business, has announced a significant development in the quest to lower the cost of DNA sequencing. Scientists from the company have sequenced a human
genome using its next-generation genetic analysis platform. The sequence data generated by this project reveal numerous previously unknown and potentially medically significant genetic variations. It also provides a high-resolution, whole-genome view of the structural variants in a human genome, making it one of the most in-depth analyses of any human genome sequence. Applied Biosystems is making this information available to the worldwide scientific community through a public database hosted by the National Center for Biotechnology Information (NCBI).
The SOLiD System is an end-to-end next-generation genetic analysis solution comprised of the sequencing unit, chemistry, a computing cluster and data storage. The platform is based on sequencing by
oligonucleotide ligation and detection. Unlike polymerase sequencing approaches, the SOLiD System utilises a proprietary technology called stepwise ligation, which generates high-quality data for applications
including: whole genome sequencing, chromatin immunoprecipitation (ChIP), microbial sequencing, digital karyotyping, medical sequencing, genotyping, gene expression, and small RNA discovery, among others.
Unparalleled throughput and scalability distinguish the SOLiD System from other next-generation sequencing platforms. The system can be scaled to support a higher density of sequence per slide through
bead enrichment. Beads are an integral part of the SOLiD System’s open-slide format architecture, enabling the system to generate up to 9 gigabases of sequence data per run. The combination of the openslide
format, bead enrichment, and software algorithms provide the infrastructure for allowing it to scale to even higher throughput, without significant changes to the platform’s current hardware or software.