Bring certainty to isoform detection
Changes in isoform variants and relative abundancies are an important clue in deciphering how genomic variants drive the phenotypic differences between health and disease. Only long-read sequencing can provide unbiased, direct detection of all the isoforms present in your sample.
Single Molecule, Real-Time (SMRT) Sequencing delivers the long reads needed to capture intact isoform information without assembly or complicated algorithms. Use the Iso-Seq method to:
- Profile whole transcriptomes exhaustively at the isoform-level
- Characterize alternative start and polyadenylation sites as well as exon skipping events
- Detect isoforms as potential biomarkers
- Target genes of interest using synthetic probes with sample multiplexing to query isoforms in a cost-effective manner
 | Sample & Library Preparation |
| Prepare full-length transcripts with flexible sample and library workflows |
 | Sequencing |
| Simplify sample prep workflow and reduce project costs by using the Sequel Systems |
 | Data Analysis |
| Output high-quality, full-length transcript sequences with no assembly required |
Application Brief: Learn more about these best practices for long-read RNA sequencing
Spotlight: Identify novel full-length isoforms in castration-resistant prostate cancer (CRPR)
Scientists used long-read sequencing to identify and quantify full-length androgen receptor (AR) isoforms expressed in CRPC. They identified a truncated isoform, AR-V9, which shows potential to be a more predictive biomarker than AR-V7 of primary resistance to AR-targeted therapies. Explore this research further:
Kohli, M. et al. (2017) Androgen receptor variant AR-V9 is co-expressed with AR-V7 in prostate cancer metastases and predicts abiraterone resistance. Clinical Cancer Research
Selected Resources
- Pike, Alexandra M et al. (2019) TIN2 Functions with TPP1/POT1 To Stimulate Telomerase Processivity. Molecular and cellular biology
- Meyer, Kate D et al. (2019) DART-seq: an antibody-free method for global m6A detection. Nature methods
- Manek, Rachna et al. (2019) 5’UTR-mediated regulation of Ataxin-1 expression. Neurobiology of disease
- Watson, Corey T et al. (2019) A comparison of immunoglobulin IGHV, IGHD and IGHJ genes in wild-derived and classical inbred mouse strains. Immunology and cell biology
- Wan, Ying et al. (2019) Systematic identification of intergenic long-noncoding RNAs in mouse retinas using full-length isoform sequencing. BMC genomics
- Sheynkman, Gloria M. et al. (2019) ORF Capture-Seq: a versatile method for targeted identification of full-length isoforms BioRxiv
- Mantere, Tuomo et al. (2019) Long-Read Sequencing Emerging in Medical Genetics Frontiers in genetics
- Dainis, Alexandra et al. (2019) Targeted Long-Read RNA Sequencing Demonstrates Transcriptional Diversity Driven by Splice-Site Variation in MYBPC3. Circulation. Genomic and precision medicine
- Jing, Ying et al. (2019) Hybrid sequencing-based personal full-length transcriptomic analysis implicates proteostatic stress in metastatic ovarian cancer. Oncogene
- Sayed, Mohammed E et al. (2019) NOVA1 directs PTBP1 to hTERT pre-mRNA and promotes telomerase activity in cancer cells. Oncogene
- Lian, Bi et al. (2019) Unveiling novel targets of paclitaxel resistance by single molecule long-read RNA sequencing in breast cancer. Scientific reports
- Deslattes Mays, Anne et al. (2019) Single-Molecule Real-Time (SMRT) Full-Length RNA-Sequencing Reveals Novel and Distinct mRNA Isoforms in Human Bone Marrow Cell Subpopulations. Genes
- Bruijnesteijn, Jesse et al. (2018) Extensive alternative splicing of KIR transcripts. Frontiers in immunology
- Lee, Ming-Hsiang et al. (2018) Somatic APP gene recombination in Alzheimer’s disease and normal neurons. Nature
- Hughes, Timothy et al. (2018) Elevated expression of a minor isoform of ANK3 is a risk factor for bipolar disorder. Translational psychiatry
- Gupta, Ishaan et al. (2018) Single-cell isoform RNA sequencing characterizes isoforms in thousands of cerebellar cells. Nature biotechnology
- Dougherty, Max L et al. (2018) Transcriptional fates of human-specific segmental duplications in brain. Genome research
- Pollard, Martin O et al. (2018) Long reads: their purpose and place. Human molecular genetics
- Nattestad, Maria et al. (2018) Complex rearrangements and oncogene amplifications revealed by long-read DNA and RNA sequencing of a breast cancer cell line. Genome research
- Kronenberg, Zev N et al. (2018) High-resolution comparative analysis of great ape genomes. Science
- Cantsilieris, Stuart et al. (2018) Recurrent structural variation, clustered sites of selection, and disease risk for the complement factor H (CFH) gene family. Proceedings of the National Academy of Sciences of the United States of America
- Anvar, Seyed Yahya et al. (2018) Full-length mRNA sequencing uncovers a widespread coupling between transcription initiation and mRNA processing. Genome biology
- Bruijnesteijn, Jesse et al. (2018) Human and rhesus macaque KIR haplotypes defined by their transcriptomes. Journal of immunology
- Ardui, Simon et al. (2018) Single molecule real-time (SMRT) sequencing comes of age: applications and utilities for medical diagnostics. Nucleic acids research
- Asur, Rajalakshmi S et al. (2018) Somatic mosaicism of an intragenic FANCB duplication in both fibroblast and peripheral blood cells observed in a Fanconi anemia patient leads to milder phenotype. Molecular genetics & genomic medicine
- Tseng, Elizabeth et al. (2019) The landscape of SNCA transcripts across synucleinopathies: New insights from long reads sequencing analysis BioRxiv
- Gao, Shan et al. (2018) Two novel lncRNAs discovered in human mitochondrial DNA using PacBio full-length transcriptome data. Mitochondrion
- Poster: Underwood, Jason et al. (2020) A complete solution for full-length transcript sequencing using the PacBio Sequel II System
- Poster: Tseng, E. et al. (2019) Full-Length RNA-seq of Alzheimer brain on the PacBio Sequel II System
- Poster: Tseng, Elizabeth et al. (2019) Full-length transcriptome sequencing of melanoma cell line complements long-read assessment of genomic rearrangements
- Poster: Liqing, Tian et al. (2018) Allelic specificity of immunoglobulin heavy chain (IGH@) translocation in B-cell acute lymphoblastic leukemia (B-ALL) unveiled by long-read sequencing
- Poster: Ashby, M. et al. (2018) Scalability and reliability improvements to the Iso-Seq analysis pipeline enables higher throughput sequencing of full-length cancer transcripts
- Poster: Ho, Yeung et al. (2018) The role of androgen receptor variant AR-V9 in prostate cancer
- Poster: Ekholm, J. et al. (2017) Screening for causative structural variants in neurological disorders using long-read sequencing
- Poster: Ashby, M. et al. (2017) Simplified sequencing of full-length isoforms in cancer on the PacBio Sequel platform
- Poster: Clark, Tyson A. et al. (2017) SMRT Sequencing of full-length androgen receptor isoforms in prostate cancer reveals previously hidden drug resistant variants
- Poster: Kujawa, Steve et al. (2017) A method for the identification of variants in Alzheimer’s disease candidate genes and transcripts using hybridization capture combined with long-read sequencing
- Poster: Ashby, Meredith et al. (2017) Using the PacBio IsoSeq method to search for novel colorectal cancer biomarkers
- Gharbi, Karim (2020) Customer Experience: Advancing UK genomics research with the PacBio Sequel II System
- Schmutz, Jeremy and Conesa, Ana and Gharbi, Karim and Kuo, Richard (2020) Customer Experience: HiFi reads help scientists explore genomes and transcriptomes
- Conesa, Ana (2020) Customer Experience: Improving transcriptome research with PacBio HiFi reads
- Mars, Kristin and Laird Smith, Melissa and Vinnere Pettersson, Olga and Hardigan, Michael (2020) Webinar: Sequencing 101 – How long-read sequencing improves access to genetic information
- (2020) Video: Introduction to PacBio highly accurate long-read sequencing
- Sheynkman, Gloria, and Tseng, Elizabeth (2019) Webinar: Discover full-length RNA sequencing – No assembly required
- Levy, Shawn (2019) ASHG PacBio Workshop: Long-read sequencing in oncology and population research: Perspectives and opportunities
- Cegarra, Ana Conesa (2019) User Group Meeting: From long reads to transcript function: Bioinformatics tools for Iso-transcriptomics analysis
- Pike, Alexandra (2019) User Group Meeting: Multiple expressed isoforms of TIN2 stimulate human telomerase
- Korlach, Jonas (2019) User Group Meeting: Sequencing chemistry & application updates
- Badgett, Marty (2019) AGBT Presentation: The Sequel II System – The next evolution of SMRT Sequencing
- Korlach, Jonas and Corney, Dave (2018) Webinar: A new paradigm in DNA sequencing – Highly accurate single-molecule long reads
- (2018) Tutorial: Iso-Seq analysis application [SMRT Link v6.0.0]
- Tseng, Elizabeth (2018) ASHG PacBio Workshop: The Iso-Seq method for discovering alternative splicing in human diseases
- Pillai, Nisha (2018) Webinar: Survey of transcriptome diversity using Iso-Seq analysis
- Ashby, Meredith (2017) Webinar: Chasing alternative splicing in cancer: Simplified full-length isoform sequencing
- Auvignen, Petra (2017) AGBT Virtual Poster: Interspecies interation amoung meat spoilage-related lactic acid bacteria
- Ashby, Meredith (2017) AGBT Virtual Poster: Using the PacBio Iso-Seq method to search for novel colorectal cancer biomarkers
- Application Brochure: HiFi reads for highly accurate long-read sequencing (2020)
- Application Brochure: What can you do with one SMRT Cell? (2020)
- PacBio Certified Service Providers (2020)
- SMRT Sequencing Brochure: Delivering highly accurate long reads to drive discovery in life science (2019)
- Application Brief: Long-read RNA sequencing – Best Practices (2019)
- Cancer Brochure: Sequence cancer variants with confidence (2019)
- SMRT Analysis Brochure: Gain a deeper understanding of your sequencing data (2018)
- Case Study: SMRT sequencing brings clarity to HIV vaccine and transplant research at the Wisconsin national primate research center (2017)