Cancer research

More complete cancer transcriptomes and genomes

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Cancer genomics

In order to fulfill the promise of cancer precision medicine, a better understanding of cancer’s complex biology is needed. PacBio highly accurate sequencing allows you to uncover novel isoforms, fusions, and structural variants with exceptional accuracy.

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Long-read RNA sequencing for isoform and fusion discovery

Cancer exhibits widespread RNA dysregulation. The Iso-Seq method uncovers the full repertoire of alternative splicing and fusion events.

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Long-read WGS for somatic variant detection

Structural variants (genomic differences ≥50 base pairs) are one of the main drivers of cancer. Most structural variants are too large to reliably discover with current short-read DNA sequencing technology.

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Highly accurate short-read sequencing for rare variant detection

Using the newly developed short-read sequencing platform you can achieve unprecedented sensitivity for detecting rare variants

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AACR Annual Meeting 2023

April 14–19, 2023  |  Orlando, FL

The AACR Annual Meeting is the focal point of the cancer research community, where scientists, clinicians, other health care professionals, survivors, patients, and advocates gather to share the latest advances in cancer science and medicine. Will you be attending #AACR23? Connect with us at booth 958 to learn more about what may be missing in your #CancerResearch and how highly accurate PacBio long-read sequencing can provide a more complete cancer transcriptome.

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The Iso-Seq method offers robust detection of isoforms, fusions, and expressed mutations


RNA variant type Use cases Iso-Seq advantage Other short reads Other long reads PacBio long reads
RNA isoforms Discover RNA isoforms as source of cancer biomarkers and drug targets Read length: >2.5X isoform discovery power compared to short reads.2 Accuracy: Superior accuracy offers more robust isoform discovery power than other long-read technologies.3
RNA fusions Identify known, novel, and complex RNA fusions Read length: More robust fusion discovery power than short-read approaches.4,5 Accuracy: Highly accurate sequencing allows for robust detection of fusion isoforms.5
Expressed mutations Detect expressed mutations in RNA for genotyping and neoantigen discovery Read length: Long reads provide phasing information of expressed mutations.6 Accuracy: Highly accurate mutation detection compared to other long-read technologies.6,7

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1. Pan, Y., et al. (2021) RNA dysregulation: an expanding source of cancer immunotherapy targets. Trends in Pharmacological Sciences, 42(4), 268-282.
2. Viega, D.F.T., et al. (2022) A comprehensive long-read isoform analysis platform and sequencing resource for breast cancer. Science Advances, 8(3), eabg6711.
3. Mikheenko, A., et al. (2022) Sequencing of individual barcoded cDNAs using Pacific Biosciences and Oxford Nanopore Technologies reveals platform-specific error patterns.
Genome Research, 32(4), 726-737.
4. Nattestad, M., et al. (2018) Complex rearrangements and oncogene amplifications revealed by long-read DNA and RNA sequencing of a breast cancer cell line. Genome Research,
28(8), 1126-1135.
5. Miller, A. et al. (2022) PacBio Fusion and Long Isoform Pipeline (PB_FLIP) for Cancer Transcriptome–based Resolution of Isoform Complexity. The Journal of Molecular Diagnostics,
6. Cavelier, L. et al. (2015) Clonal distribution of BCR-ABL1 mutations and splice isoforms by single-molecule long-read RNA sequencing. BMC Cancer, 15:45
7. Olson, N. et al. (2022) PrecisionFDA Truth Challenge V2: Calling variants from short and long reads in difficult-to-map regions. Cell Genomics, 2, 100129


Alternative splicing (AS) results in the generation of multiple RNA isoforms from a single gene, greatly increasing both transcriptomic and proteomic diversity. AS controls which introns are removed from premRNAs and which exons are combined to form the final messenger RNA (mRNA).¹

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Cancer research in action

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Complex oncogene amplifications revealed

A detailed map of structural variations in breast cancer.

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Long reads reveal differences in drug response

Learn how PacBio’s accurate long-read RNA sequencing provides true discovery power of cancer-related RNA isoforms and allows for the understanding of molecular mechanisms underlying cancer biology in this webinar.

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Researchers are moving away from using only short-read sequencing, making new insights into the role of RNA dysregulation in tumor biology.

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Did you know we have a comprehensive library of articles, reports, papers, and videos related to cancer research?

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On-demand webinar

The RNA isoform landscape of cancer

Learn how PacBio’s accurate long-read RNA sequencing provides true discovery power of cancer-related RNA isoforms and allows for the understanding of molecular mechanisms underlying cancer biology in this webinar.

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PacBio sequencers empower you to better understand the complex biology of cancer.

Reveal novel isoforms, fusions, and structural variants with exceptional accuracy.

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