Cancer genomics
A more complete understanding of cancer genomes, epigenomes, and transcriptomes
One single technology.
The whole multi-omic view.
PacBio HiFi reads on our Revio and Vega systems are both long (up to 25 kb) and accurate (≥90% of bases at Q30+), while including direct detection of epigenetic modifications like methylation. This means that researchers can take a wholistic and multi-omic approach to understanding cancer biology with a single technology that can access complete cancer genomes, epigenomes, and transcriptomes.
Long-read WGS for somatic variant detection + epigenetics
Structural variants (genomic differences ≥50 bp) and changes in methylation and chromatin accessibility play vital roles in tumor initiation, progression, and resistance. Discover structural variants, other somatic variants, direct methylation detection,and haplotype phasing through HiFi whole genome sequencing.
Long-read RNA sequencing for isoform + fusion discovery
Cancer exhibits widespread RNA dysregulation beyond simple changes in gene expression. The Iso-seq method powered by Kinnex uncovers the full spectrum of alternative splicing and fusion events for a more complete view of the cancer transcriptome.
A more complete view of cancer:
See genome, epigenome, & transcriptome with HiFi long-read sequencing
Brochure
Cancer genomics
Understanding the complexity of cancer biology requires multiomic tools that can accurately and comprehensively profile all types of somatic and germline variation. These include not only small variants like SNVs and indels, but also structural variants, fusions, isoforms, differential methylation and chromatin accessibility, and changes in repetitive elements. It is also critical to be able to detect rare somatic variants at low frequency, either in plasma or in the tumor itself, as these may indicate the emerging recurrence or subclonal drug resistance. Highly accurate long and short read sequencing technology from PacBio addresses these challenges, providing comprehensive characterization of the changes that lead to cancer and enabling discovery of a new generation of cancer biomarkers.
Reveal hidden biomarkers
PacBio technology allows cancer researchers to access the full spectrum of variation to find new biomarkers associated with tumor growth, progression, and resistance. Existing short read methods lack the read length to characterize structural variants or span larger repetitive regions, or to phase variants into haplotypes to identify whether mutations are in cis or in trans. At the same time, other long reads lack the accuracy to precisely pinpoint fusion breakpoints or to accurately call smaller variants like SNVs and indels. With PacBio sequencing, researchers can address any question, any variant type, and any application in cancer genomics.
| HiFi | SBS | ONT | |
|---|---|---|---|
| SNVs |  |  |  |
| Indels |  |  |  |
| SVs |  |  |  |
| Methylation |  |  |  |
| Chromatin |  |  |  |
| Phasing |  |  |  |
| Isoforms |  |  |  |
| Fusions |  |  |  |
| Rare variants |  |  |  |
Cancer research in action
Publication
A comprehensive long-read isoform analysis platform for breast cancer
Long-read RNA sequencing identifies novel biomarkers and drug targets in breast cancer.
Complex oncogene amplifications revealed
A detailed map of structural variations in breast cancer.
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.
LONG-READ SEQUENCING REVEALS MORE OF THE TUMOR TRANSCRIPTOME
Researchers are moving away from using only short-read sequencing, making new insights into the role of RNA dysregulation in tumor biology.
Explore
Did you know we have a comprehensive library of articles, reports, papers, and videos related to cancer research?
Webinar
Comprehensive variant detection in pediatric leukemia research with accurate long-read whole genome sequencing
Molecular diagnostics in cancer currently requires multiple assays to characterize all types of variants in cancer genomes, increasing cost and turnaround time. In this webinar, discover how clinical researchers used HiFi whole genome sequencing to discover variants in pediatric leukemia that were missed by other methods, as a step towards a single consolidated assay.
THIS IS YOUR MOMENT
PacBio sequencers empower you to better understand the complex biology of cancer.
Reveal novel isoforms, fusions, and structural variants with exceptional accuracy.