Human Longevity Inc. adds PacBio sequencing for insight into human genetic variation

Two PacBio RS II Sequencing Systems will be used to help build HLI's genotype/phenotype database

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MENLO PARK, Calif.—Pacific Biosciences of California, Inc., provider of the PacBio® RS II DNA Sequencing System, today announced that Human Longevity Inc. (HLI) has added Single Molecule, Real-Time (SMRT®) sequencing technology to the DNA sequencing technologies they are using in pursuit of the company’s goal of compiling the most comprehensive and complete human genotype, microbiome, and phenotype database.

HLI selected the new instruments in recognition of the unique characteristics of SMRT sequencing, which cannot be found in other available DNA sequencing technologies. J. Craig Venter, Ph.D., HLI's co-founder, chairman, and CEO, said in a news release. "Each new sequencing technology has its own unique strengths, and we recognize the value of very long PacBio reads for covering regions of the human genome that we saw with Sanger sequencing. Long-read sequencing also provides higher confidence for calling structural variants and phasing haplotypes, both of which we think will be critically important for understanding the human genome. To get to a medical-grade genome, or a genome that can be used for clinical diagnostic purposes, we need to have the most accurate and complete genome for each individual. We believe that the PacBio SMRT machines will help us reach this goal."

A number of recent publications and presentations have highlighted the advantages of using long-read SMRT sequencing data to extend the view of human genetic variation. The long sequence reads provided by the PacBio RS II are complementary to short reads from high-throughput machines because they enable human genome researchers to, for example, sequence complex genomic regions, resolve structural variation, phase haplotypes, improve the utility and mapping ability of reference genomes, fill gaps, and validate variant calls. This provides the most comprehensive view possible of the human genome.

Michael Hunkapiller, President and Chief Executive Officer of Pacific Biosciences, said "Even organizations like Craig's with access to high-throughput sequencing instruments are realizing that in order to capitalize on their investment they need PacBio sequencing to see what all other DNA sequencing technologies are missing. As we recently demonstrated with our Macrogen instrument sales, this is creating a great market opportunity for us. We are excited to be part of these large-scale initiatives and to be providing unique value to our customers."

Pacific Biosciences' SMRT Sequencing technology achieves the industry's longest read lengths, highest consensus accuracy, and the least degree of bias. PacBio’s Chief Scientific Officer Jonas Korlach points out that reads can be in excess of 10,000 bases and range as high as 30-40,000. No PCR amplification is necessary, he notes, which can introduce bias. These characteristics, combined with the ability to detect many types of DNA base modifications (e.g., methylation) as part of the sequencing process, make the PacBio RS II an essential tool for many scientists studying genetic and genomic variation and the company has now placed about 100 instruments worldwide.
The PacBio platform provides a sequencing solution that can address a growing number of complex medical, agricultural, and industrial problems. One example cited by Korlach was a 2011 Klebsiella outbreak at the NIH clinical center. Such instances of nosocomial infections are responsible for about 100,000 deaths each year, he points out. The use of SMRT technology provided a genetic blueprint of the bacteria and led researchers to the answer. The culprit was identified and found in a sink drain. “We’ve laid down an approach to get the best data possible,” Korlach observes. “Now we’re proceeding to increase throughput with the goal of a four-fold increase per year.”

Pacific Biosciences of California, Inc. offers the PacBio RS II DNA Sequencing System to help scientists solve genetically complex problems. Based on its novel Single Molecule, Real-Time (SMRT) technology, the company's products enable: targeted sequencing to more comprehensively characterize genetic variations; de novo genome assembly to more fully identify, annotate, and decipher genomic structures; and DNA base modification identification to help characterize epigenetic regulation and DNA damage. By providing access to information that was previously inaccessible, Pacific Biosciences enables scientists to increase their understanding of biological systems.

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