Unlocking Therapeutic Innovation: How Long-Read Sequencing is Transforming Biopharma

Seeing the Full Picture in Biopharma

Developing new therapeutics is a complex journey. Success depends on understanding biology at its most precise level—whether discovering novel biomarkers, optimizing gene therapies, or ensuring the integrity of biologics.

Traditional short-read sequencing may leave gaps in complex regions, obscuring structural variants, isoforms, or epigenetic modifications. Admera’s long-read sequencing solutions provide highly accurate, full-length reads that reveal the complete molecular landscape, enabling researchers to make confident, data-driven decisions throughout the drug development process.

Biomarker Discovery

Identifying new therapeutic targets and biomarkers is essential, but incomplete or inaccurate molecular data can lead to costly setbacks later in development. Long-read sequencing provides a comprehensive view of the transcriptome, genome, and epigenome from the start:

  • Full-length RNA sequencing: Capture complete isoforms to uncover fusion genes, alternative splicing, and disease-specific transcripts.

  • Whole-genome sequencing (WGS): Fully phase and characterize challenging regions, detecting single nucleotide variants (SNVs), indels, and structural variants across the genome.

  • Epigenetic profiling: Detect methylation marks (5mC and 6mA) and chromatin accessibility to reveal regulatory features influencing gene expression.

These integrated datasets allow researchers to identify biomarkers with confidence, reduce downstream validation errors, and accelerate discovery. For example, full-length transcriptome analysis can uncover disease-associated isoforms invisible to short-read methods, directly informing drug target selection and diagnostic development.

Accelerating Gene and Cell Therapy

Long-read sequencing is critical for gene and cell therapy research, including CRISPR-based genome editing. It enables CRISPR validation, AAV vector analysis, cell-line QC, and more.

  • CRISPR validation: Detect on-target and off-target edits, including SNVs, indels, and complex rearrangements, with allele-specific resolution.

  • AAV vector analysis: Sequence full-length vectors, including inverted terminal repeats (ITRs) and cap genes, detecting impurities, truncations, or rearrangements.

  • Cell line QC: Confirm genomic integrity of master cell banks and production cell lines, detecting structural variants and epigenetic changes before therapeutic use.

Repeat expansions are among the most challenging dark regions of the genome, often missed by short-read sequencing due to their length, complexity, and methylation status. PacBio’s PureTarget repeat expansion panel resolves repeat sequences at single-base resolution, detect methylation, and deeply profile mosaicism across 20 pathogenic loci—including HTT, FMR1, FXN, C9ORF72, and ATXN genes—unlocking insights into disorders like Huntington’s, Fragile X, and ataxias in a single, streamlined run.

The PureTarget Carrier Panel solves a common problem in genetic screening: analyzing hard-to-sequence genes. Traditional methods require several time-consuming techniques to get a full picture, which slows things down and adds cost. PureTarget makes this easier by using long-read sequencing to capture these challenging regions in a single, comprehensive assay, boosts variant detection by revealing structural and epigenetic features that standard methods often miss.

PacBio Iso-Seq and single-cell full-length RNA sequencing offer unparalleled resolution in transcriptome analysis by capturing entire RNA molecules from end to end. Unlike short-read methods that fragment transcripts and often miss splice variants or fusion events, these long-read technologies preserve the full structure of each transcript—including exon connectivity, alternative splicing, and polyadenylation sites. This enables researchers to detect rare, tissue-specific, and disease-associated isoforms that are invisible to conventional sequencing approaches, directly informing drug target selection and diagnostic development.

Advancing Antibody and RNA-Targeted Therapeutics

Long reads also enhance biologics development:

  • Antibody discovery: Sequence full-length heavy and light chains, including scFv and Fab constructs, capturing rare variants and repetitive regions often missed by short reads. This enables accurate clone selection and structural interpretation.

  • RNA-targeted therapies: Full-length transcriptome profiling identifies disease-relevant isoforms, guiding antisense oligonucleotide (ASO) and mRNA therapeutic design. Knowing the most abundant or pathogenic isoforms ensures therapies reach their intended targets.

  • mRNA vaccines: Sequence the full molecule, including poly(A) tails, to confirm construct identity and stability, critical for manufacturing consistency and translational efficiency.

Why Researchers Choose Admera

Admera's long-read sequencing solutions equip biopharma teams with the precision, completeness, and confidence required to accelerate discovery, optimize therapeutic products, and reduce risk later in the development process.

By integrating crucial genomic, transcriptomic, and epigenomic data into a single, comprehensive view, researchers gain the power to identify novel biomarkers and therapeutic targets, validate CRISPR and gene editing workflows, ensure the integrity and consistency of gene and cell therapies, and optimize biologics and RNA-targeted treatments.

From discovery to development, long-read sequencing unlocks insights that short reads cannot. Partner with Admera to fast-track your therapeutic research and bring breakthroughs closer to patients.

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The Role of Long-Reads in Transcript Isoform Discovery and RNA Analysis