August 19, 2021 |
Infographic — Identify the cause of unsolved genetic disease with long-read sequencing
Explore how long-read sequencing enables solving of rare and mendelian diseases.
Asset Tag: Human Biomedical Research,
August 19, 2021 |
Case Study — Scientists deconstruct cancer complexity through genome and transcriptome analysis
At Cold Spring Harbor Laboratory, scientists used SMRT Sequencing to decode one of the most challenging cancer genomes ever encountered. Along the way, they built a portfolio of open-access analysis tools that will help researchers everywhere make structural variation discoveries with long-read sequencing data.
August 19, 2021 | Cancer research
Brochure — Sequence cancer variants with confidence
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.
August 19, 2021 | Sequencing methods
Application brief — HiFi amplicon sequencing
With PacBio® long reads you can easily and cost-effectively sequence full length amplicons that target genes or regions of interest, from several hundred base pairs to kilobase scale. Highly accurate…
August 19, 2021 | Sequencing methods
Application brief — Long-read RNA sequencing
With Single Molecule, Real-Time (SMRT) Sequencing and the Sequel Systems, you can easily and affordably sequence complete transcript isoforms in genes of interest or across the entire transcriptome. The Iso-Seq method allows users to generate full-length cDNA sequences up to 10 kb in length — with no assembly required — to confidently characterize full-length transcript isoforms.
August 19, 2021 |
Application brochure — HiFi reads for highly accurate long-read sequencing
Discover the benefits of HiFi reads and learn how highly accurate long-read sequencing provides a single technology solution across a range of applications.
August 19, 2021 | Sequencing methods
Application brief — Single-cell RNA sequencing with HiFi reads
With PacBio single-cell RNA sequencing using the Iso-Seq method, you can now distinguish between alternative transcript isoforms at the single-cell level. The highly accurate long reads (HiFi reads) can span the entire 5′ to 3′ end of a transcript, allowing a high-resolution view of isoform diversity and revealing cell-to-cell heterogeneity without the need for assembly.
August 19, 2021 | Sequencing methods
Application brief — Whole genome sequencing for de novo assembly
PacBio HiFi reads provide both long read lengths (up to 25 kb) and high accuracy (>99.9%) to quickly and affordably generate contiguous, complete, and correct de novo genome assemblies of even the most complex genomes.
August 19, 2021 | Human genetics research
Application brochure — Scalable human whole genome HiFi sequencing for rare and inherited disease research
PacBio highly accurate long reads – HiFi reads – offer a single-platform solution for rare and inherited disease research, elucidating suspected genetic causes of disease in up to ~50% of cases that have not previously been explained using short-read exome or whole genome sequencing. PacBio offers an efficient workflow, developed in collaboration with Children’s Mercy Kansas City, which provides a scalable solution for sequencing 100s to 1000s of whole human genomes per year on the Sequel II and Sequel IIe Systems.
August 19, 2021 | Infectious disease research
Application brief — Variant detection using whole genome sequencing with HiFi reads
With highly accurate long reads (HiFi reads) from the Sequel II or IIe Systems you can comprehensively detect variants in 100s to 1000s of genomes in a year. HiFi reads provide high precision and recall for single nucleotide variants (SNVs), indels, structural variants (SVs), and copy number variants (CNVs), including in difficult-to-map repetitive regions.
August 19, 2021 | Rare disease
Informational guide — Whole genome sequencing for understanding rare diseases
Learn how PacBio highly accurate long reads enable an improved approach to whole genome sequencing to understand the genetic origins of rare diseases.
August 19, 2021 | Human genetics research
Publication at a Glance — The complete sequence of a human genome
This landmark study by members of the Telomere-to-Telomer Consortium is the first fully complete assembly to be produced 20 years after the initial drafts of the human genome.
August 12, 2021 |
Transformative Drug Research and Development via Accurate and Scalable Long-Read Sequencing Services
In this video Shawn Levy, Discovery Life Sciences’ Chief Scientific Officer, along with Cheryl Heiner, PacBio Principal Scientist, discuss the advantages of HudsonAlpha Discovery’s specialized sequencing services for PacBio HiFi…
July 2, 2021 |
A Spatially Resolved Brain Region and Cell Type-Specific Isoform Atlas of the Postnatal Mouse Brain
In this SMRT Science Journal Club talk, Anoushka Joglekar from Weill Cornell Medicine discusses how she and her colleagues are developing tools to produce an isoform view of the brain…
July 2, 2021 |
AAV-Genome Population Sequencing of Vectors Packaging CRISPR Components Reveals Design-Influenced Heterogeneity
In this SMRT Science Journal Club talk, Phillip Tai from the University of Massachusetts Medical School discusses his investigation in the design compatibility of CRISPR components in AAV vectors.