Targeted amplification of difficult pharmacogenetic loci with PacBio HiFi reads can resolve complex alleles in a single direct assay without imputation.
New workflow for preparing SMRTbell libraries from <4ug gDNA input using AMPure PB bead purification. This workflow requires samples with high molecular weight gDNA with minimal presence of <5kb fragments.
With PacBio Single Molecule, Real-Time (SMRT) Sequencing on the Sequel IIe System you can characterize highly polymorphic CYP2D6 locus from 384 or more samples with just one SMRT Cell. Explore our applications and pricing to get your sequencing project started.
We developed a novel method to comprehensively interrogate a panel of 43 pharmacogenomic genes using an enrichment-based capture strategy (IDT) coupled with PacBio highly accurate (HiFi) Sequencing.
Using concatenation we increase single-cell Iso-Seq (scIso-Seq) throughput to ~8 million de-concatenated full-length molecules per SMRT Cell 8M. We show that the scIso-Seq method captures full-length isoform information at the single-cell level.
The COVID-19 pandemic continues to be a major global epidemiological challenge with the ongoing emergence of new strain lineages that are more contagious, more virulent, drug-resistant, and in some cases…
Pharmacogenomics (PGx) utilizes genomic information to assess an individual’s response to certain medications and can be used to predict adverse drug reactions or decreased efficacy. While numerous assays and genetic…
With the September 2021 closing of PacBio’s acquisition of Omniome, PacBio intends to become the first company to offer both long-read and short-read sequencing platforms. What does this mean for…
In this ESHG 2021 Workshop, PacBio Chief Scientific Officer Jonas Korlach, Ph.D., describes why HiFi sequencing improves the ability to detect pathogenic variants that previously went undetected with other technologies. He…
The highly polymorphic CYP2D6 gene impacts the metabolism of 25% of the mostly prescribed drugs. Thus, accurate identification of variant CYP2D6 alleles in individuals is necessary for personalized medicine. PacBio HiFi sequencing produces long and accurate reads to identify variant regions. Here, we describe an end-to-end workflow for the characterization of full-length CYP2D6 by HiFi sequencing.
There are many clinically important genes in “dark” regions of the human genome. These regions are characterized as dark due to a paucity of NGS coverage as a result of short-read sequencing or mapping difficulties. Low NGS sequencing yield can arise in these regions due to the presence of various repeat elements or biased base composition while inaccurate mapping can result from segmental duplications. Long-read sequencing coupled with an optimized, robust enrichment method has the potential to illuminate these dark regions.
Many genetic diseases are mapped to structurally complex loci. These regions contain highly similar paralogous alleles (>99% identity) that span kilobases within the human genome. Comprehensive screening for pathogenic variants is incomplete and labor intensive using short-reads or optical mapping. In contrast, long-range amplification and PacBio HiFi sequencing fully and directly resolve and phase a wide range of pathogenic variants without inference. To capitalize on the accuracy of HiFi data we designed a new amplicon analysis tool, pbAA. pbAA can rapidly deconvolve a mixture of haplotypes, enabling precise diplotyping, and disease allele classification.
PacBio scientists will present new research at the ESHG Conference demonstrating how HiFi sequencing enables new discoveries. Learn how scientists are adopting highly accurate long reads, known as HiFi reads,…
Structural variation accounts for much of the variation among human genomes. Structural variants of all types are known to cause Mendelian disease and contribute to complex disease. Learn how long-read sequencing is enabling detection of the full spectrum of structural variants to advance the study of human disease, evolution and genetic diversity.
Korean service provider DNA Link has established strong expertise with the PacBio sequencing platform in response to high global demand for the technology.
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