To bring personalized medicine to all patients, cancer researchers need more reliable and comprehensive views of somatic variants of all sizes that drive cancer biology.
The Sequel II System, powered by Single Molecule, Real Time (SMRT) Technology, delivers highly accurate long reads for a comprehensive view of genomes, transcriptomes and epigenomes.
Korean service provider DNA Link has established strong expertise with the PacBio sequencing platform in response to high global demand for the technology.
The Sequel System, powered by Single Molecule, Real Time (SMRT) Technology, delivers long reads, high consensus accuracy, uniform coverage and epigenetic characterization.
Ellen Paxinos, a scientist at PacBio, shares her AGBT poster on work done in collaboration with reference lab Monogram Biosciences using Single Molecule, Real-Time (SMRT) sequencing to detect minor species and variants in HCV. Using two genotypes mixed together, the team was able to detect variants down to 1% and to identify both viral haplotypes from the data. Paxinos says the study is a model for looking at genomic variation in chronic viral infection.
Judson Ward, principal scientists at Driscoll’s Strawberries in California, introduces a genome assembly for Potentilla micrantha, which is closely related to strawberry but lacks fleshy ‘fruits’ or berries. Comparative genomics between P. micrantha and strawberry will yield significant information regarding the genetic mechanisms controlling fruit development. Using SMRT Sequencing Driscoll’s sequenced the 240 Mb P. micaranthagenome and produced a draft genome assembly, spanning the majority of the predicted sequence length. A comparison of sequence data produced using the Illumina HiSeq2000 and the PacBio RS platform demonstrated that PacBio sequencing produced a significantly longer N50 contig size and permitted a more complete genome…
Paul Hagerman, MD/PhD, a professor in the biochemistry and molecular medicine department at UC Davis discusses the use of PacBio SMRT sequencing technology for the fragile X gene. Hagerman says the PacBio RS is able to sequence through more than a kilobase of the CGG trinucleotide repeat element underlying Fragile X Syndrome — something no other sequencing platform has achieved. He also plans to use the data to study methylation of this gene, which tends to occur in cases where there are more than 200 copies of the CGG element.
In this presentation, Greg Harhay from the USDA offers data on pathogens involved in bovine respiratory disease complex, known as “shipping fever.” His team used PacBio sequencing to analyze several isolates from two different pathogens, looking at their DNA sequence and methylation patterns.
Harold Swerdlow, who formerly ran the R&D department at Wellcome Trust Sanger Institute, discusses the Sanger team’s use of the PacBio RS sequencer. He says the system is uniquely suited for de novo sequencing and genome assembly, methylation pattern identification, and low-level variant detection because of its long reads and high-accuracy, single-molecule sequencing. At Sanger, that makes a real difference for the large-scale projects they have in cancer biology, pathogen sequencing, and human genetics.
The Genome Analysis Centre’s (TGAC) Matthew Clark, who leads the sequencing technology development group, says that high-accuracy PacBio sequencing is ideal for GC-rich or AT-rich genomes since it shows no GC bias. This has enabled his team to sequence several strains of Streptomyces and elucidate gene clusters thought to be important in antibiotic production. Clark says long reads from SMRT Sequencing are good for other hard-to-sequence regions, such as repeats or large transposable elements.
Sebastian Suerbaum from Hannover Medical School shows that genome-wide methylation patterns in Helicobacter pylori are highly complex and diverge significantly between strains of the microbe. He presents a full-methylome analysis of two H. pylori strains, finding 32 total methylated motifs with just seven shared between strains. Of the 32 motifs, 11 were new discoveries.
This animation depicts a process by which single molecule SMRTbell templates are loaded in the Zero Mode Waveguides (ZMWs) of the PacBio RS II sequencing system using the automated MagBead Station.