Human RNA sequencing

Long-read RNA sequencing is revolutionizing the way we understand the functional impacts of variation in the human genome. Full-length RNA sequencing with the PacBio Iso-Seq method allows for more comprehensive, isoform-level insights into the human transcriptome, paving the way for major breakthroughs across various fields of human disease research.

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The transcriptome you’ve been waiting for

Full-length isoform sequencing for bulk and single-cell RNA studies allow for characterization of complex alternative splicing, fusion transcripts, prediction of open reading frames, and cell-type specific isoform expression. Short-read RNA-seq cannot sequence the entire transcripts and relies on computational methods for inferencing, often resulting in incomplete or missing transcripts that miss the true biology.

Other long-read technologies can be less accurate, producing fewer or more truncated reads (Pardo-Palacios et al. 2023, Calvo-Roitberg et al. 2023).1, 2 Get the most out of your RNA experiments with full-length RNA sequencing on PacBio.

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Fully characterize isoform diversity in neurons and glial cells and capture alternative splicing events and complex gene architecture in the brain. Understand mechanisms of brain development, neurological conditions, brain injury, and psychiatric disease with full-length RNA sequencing.


Rare disease research

Functionally characterize variants of unknown significance, discover aberrant splicing, differential transcript usage or expression patterns that reveal mechanisms of rare disease. Understand disease etiology or pathogenesis beyond germline DNA.


Cardiology research

Leverage a more complete cardiac transcriptome to fully characterize genetic factors underlying development of heart disease. Gain isoform-level resolution of cell types in the heart to better understand the mechanisms of cardiac function, injury, and disease.


Immunology research

Characterize complex splicing events and rearrangements in immune cells for a high-resolution profile of immune response. Profile antibodies and immune cell types, their microenvironment interactions, and response to treatment, disease, or pathogens.


Ready to elevate your research with highly accurate full-length RNA information? Submit your application to win free sequencing.

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Bulk and single-cell isoform sequencing for human disease research

In this whitepaper, we review full-length RNA-sequencing with the PacBio Iso-Seq method and its applications in human genomics.

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Human RNA sequencing applications

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Driving discoveries in cardiology

Register for our webinar: Advancing cardiology research with long-read RNA sequencing. Discover how guest researchers are utilizing full-length RNA sequencing with PacBio to power groundbreaking research for a better understanding of heart development and cardiovascular injury and disease.

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Understanding functional impact in Rare Disease

Full-length isoform sequencing for resolving the molecular basis of Charcot-Marie-Tooth 2A3

In this study, authors utilized full-length RNA sequencing with PacBio to elucidate the function of an intronic SNP thought to be causal in a case of axonal type 2a Charcot-Marie-Tooth disease. The study identified five distinct transcripts caused by alternative splicing, and found that while the canonical transcript was present, the candidate SNP led to deficient protein, a likely causal mechanism for the disease.

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Uncovering insights in Immunology

Authors discuss limitations of other methods for adaptive immune receptor repertoire sequencing (AIRR-seq) and describe the use of PacBio sequencing to provide “highly accurate (mean read accuracy ~Q60) near full-length Ab sequences,” generating the most comprehensive view of bulk-expressed antibody repertoires to date.

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

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  1. Calvo-Roitberg, E., Daniels, R. F., & Pai, A. A. (2023). Challenges in identifying mRNA transcript starts and ends from long-read sequencing data. bioRxiv, 2023-07.
  2. Pardo-Palacios, F. J., et al., (2023). Systematic assessment of long-read RNA-seq methods for transcript identification and quantification. bioRxiv, 2023-07.
  3. Stergachis, A. B., et al. (2023). Full-length isoform sequencing for resolving the molecular basis of Charcot-Marie-Tooth 2A. Neurology Genetics, 9(5).


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Into the multiome

Leverage full-length RNA sequencing in multiomics for an extraordinary view of the human genome. Leveraging other PacBio workflows, discover how you can simultaneously capture the human genome, transcriptome, CpG methylome, and chromatin epigenome, all on a single Revio SMRT Cell sequencing run.

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The Kinnex full-length RNA kit produces full-length isoforms up to 10 kb. Combine with the Iso-Seq express 2.0 kit and SMRT Link analysis to characterize and compare known and novel isoforms for your RNA research.

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If you have a question, need to check the status of an order, or are interested in purchasing an instrument, we're here to help.