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 to differentiate isoform expression between cells, tissues, or disease states
- Identify potential isoform-specific biomarkers
- Target individual genes to see changes in isoform type or abundance across samples or conditions
- Observe allele-specific gene expression
 | 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 System |
 | 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
- Gupta, Ishaan et al. (2018) Single-cell isoform RNA sequencing (ScISOr-Seq) across thousands of cells reveals isoforms of cerebellar cell types. BioRxiv
- 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
- Pollard, Martin O et al. (2018) Long reads: their purpose and place. Human Molecular Genetics
- 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
- Lodé, Laurence et al. (2018) Single-molecule DNA sequencing of acute myeloid leukemia and myelodysplastic syndromes with multiple TP53 alterations. Haematologica
- Kohli, Manish 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
- 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
- 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
- (2017) Tutorial: Iso-Seq analysis application [SMRT Link v5.0.0]
- PacBio Certified Service Providers (2018)
- Application Brief: Long-read RNA sequencing – Best Practices (2018)
- SMRT Sequencing Brochure: Revolutionize genomics with SMRT Sequencing (2018)
- Case Study: SMRT sequencing brings clarity to HIV vaccine and transplant research at the Wisconsin national primate research center. (2017)
- Cancer Brochure: Discover the hidden landscape of cancer variants (2017)
- SMRT Analysis Brochure: Gain a deeper understanding of your sequencing data (2017)