Great discoveries lie ahead. Human genomics research has never been more powerful or insightful
Knowledge of the human genome has been rapidly expanding and as it moves toward the clinic and therapeutic target discovery, you can begin to imagine a future where immune and neurodegenerative diseases are so well understood that precise therapies and BioPharma drug targets can be readily identified.
To empower that future, genetic characterization tools are needed to not only reveal genetic variant information but also reveal complexities of the genome, transcriptome and epigenome.
Long-read sequencing from PacBio can help you get there with its multiomic platform that can provide deep insights into complex genetic information such as Structural Variants, Tandem Repeats, Isoforms and Methlyation to name a few.
Since much of what has yet to be discovered lies in difficult or dark areas of the genome, it is critical to use a technology like long-read sequencing from PacBio that can enhance understanding, easily resolve, and uncover those mysteries.
Neuroscience
Explore how long-read sequencing can uncover genetic drivers of neurological, neuromuscular, and neurodegenerative disorders.
Immunogenomics
Discover how long-read sequencing can reveal the diversity that drives adaptive immunity.
Customer case study
Highly accurate long reads, or HiFi reads, have allowed scientists to sequence through these challenging regions, base by base, for the most comprehensive and complete representation of even very large repeat expansions.
Read how PacBio long-read sequencing removed the barrier of sequencing long tandem repeats in ALS.
On-demand webinar
HIFI RNA for Cardiogenomics
Hear two researchers discuss their use of bulk and single-cell sequencing with the PacBio Iso-Seq method for cardiology research.
Publication spotlight
IGLoo: Profiling the Immunoglobulin Heavy chain locus in Lymphoblastoid Cell Lines with PacBio High-Fidelity Sequencing reads
In this preprint, researchers from JHU and Penn State conducted the “first work to systematically analyze and report non-canonical recombination events in long-read datasets and assemblies.”
Biopharma applications
Interested in how you can accelerate your biopharma research?
Highly accurate long-read sequencing has proven incredibly useful along the pathway to conduct research related to biomarkers, patient stratification and therapeutics.
- Identify potential drug targets and biomarkers quickly and confidently through identifying disease-associated variants that have been invisible with short-read sequencing methods such as structural variants or RNA isoforms.
- Develop novel and effective biologics by elevating your directed evolution approaches with longer regions to alter and optimize.
- Assess the potential safety and efficacy of gene and cell therapies such as AAV vectors or CRISPR/Cas9 gene editing.
Scale human disease research with HiFi sequencing
Reveal the complexity of the human genome to power human disease research