PacBio Literature

Powered by the innovative sequencing by binding (SBB®) technology, the Onso system delivers unprecedented accuracy and sensitivity to advance your critical and groundbreaking research.

Access many benefits of PacBio® HiFi long-read sequencing at a fraction of the cost with Twist Bioscience long-read sequencing panels. Twist Bioscience’s target enrichment technology provides high capture efficiency and exceptional uniformity across target regions.

In this Application Note, we demonstrate targeted HiFi sequencing assays combined with a new informatics method for the combined analysis of SMN1 and SMN2.

With HiFi target enrichment you can easily and cost-effectively sequence just the genes you care about at scale. Design custom gene panels with our partners at Twist, sequence them with long and accurate HiFi reads, and get all the benefits you expect from HiFi reads: comprehensive detection of single nucleotide variants, structural variants, and indels. HiFi target enrichment is the only technology that can resolve complex gene families like HLA or Cytochrome P450 genes with haplotype resolution.​

In this Application note, we focus on an amplicon- sequencing based approach for the analysis of the entire GBA gene and its pseudogene with PacBio® HiFi sequencing. We also highlight the benefits of RNA isoform sequencing (Iso-Seq® method) to generate insights into the transcriptional impact of GBAP1.

In this Application Note, we focus on HiFi sequencing of full-length PCR amplicons spanning the 3.3 kb CYP21A2 and its pseudogene, CYP21A1P. PacBio HiFi reads are long (up to 25 kb) and accurate (99.9%) making them well suited to analyze the complexity of CAH-related pathogenic variants, where gene conversions and chimeric genes are the predominant mutation types.

PacBio® HiFi reads are long (up to 25 kb) and accurate (99.9%). Targeted HiFi sequencing of amplicons has the ability to span entire genes, allowing for straightforward haplotype construction, detection of structural variants or copy number variants in addition to SNVs and indels. These attributes make targeted HiFi sequencing well suited to analyze both rare and common variants of all types, thus increasing the positive detection rate of thalassemia-related variants.

PacBio® HiFi sequencing delivers highly accurate long reads for analyzing both DNA and RNA. The unique combination of accurate base calling and long read length of HiFi enable the phasing of haplotypes, coverage of high GC regions, and bisulfite-free detection of 5-methylcytosine. Together, these features allow you to explore the full extent of human genetic variation with a more comprehensive view of the genome, transcriptome, and epigenome than ever before.

The Onso short-read sequencing system is a scalable and flexible benchtop platform that provides an unprecedented level of accuracy through unique sequencing by binding (SBB®) technology. The Onso system features dual lanes, no index-hopping, and low duplications.

See it all with HiFi sequencing on the Revio™ system

The Revio™ system empowers HiFi sequencing. It adds affordability, high throughput, and ease of use to a foundation of long reads, exceptional accuracy, and direct methylation detection.

HiFi reads can span most repeats, making it possible to comprehensively profile variation in repeat regions and to measure any changes in methylation. PacBio has developed the Tandem repeat genotyping tool (TRGT) and Tandem repeat visualizer (TRVZ) as bioinformatics tools to accurately profile short tandem repeats, variable number tandem repeats, and macrosatellites.

Highly accurate long-read RNA sequencing reveals novel mechanisms of RNA dysregulation in cancer

PacBio HiFi reads sequence full-length RNA isoforms along with single-cell barcode and UMI information, revealing isoform diversity at the single-cell level.

Gene editing and HiFi sequencing provide fast, reliable solutions that can accelerate the breeding process, modify target genes to improve traits, improve plant resistances to biotic and abiotic stresses and increase plant architecture to better resist climate change.