Menu

Cancer genomics

A more complete understanding of cancer genomes, epigenomes, and transcriptomes

Connect with a PacBio scientist

Cancer genomics solutions

In order to fulfill the promise of cancer precision medicine, a more complete understanding of cancer’s complex biology is needed. Highly accurate sequencing from PacBio allows researchers to uncover novel biomarkers, including structural variants, fusions, isoforms, and epigenetic changes for a truly multiomic view of cancer.

Null

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. HiFi WGS enables simultaneous discovery of SVs and other somatic variants with direct detection of methylation and the ability to phase genetic and epigenetic changes into haplotypes.

Learn more

rna sequencing white icon

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.

Learn more

Null

Highly accurate short-read sequencing for rare variant detection

The detection of rare somatic variants is crucial for enabling early cancer detection and MRD monitoring. Highly accurate SBB short-read sequencing allows researchers to achieve unprecedented sensitivity and specificity for detecting rare variants in liquid biopsy and beyond.

Learn more

Sequencing technology that spans the breadth of cancer research applications

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.

Access the brochure

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 X
Indels X
SVs X
Methylation X
Chromatin
Phasing X
Isoforms X
Fusions X
Rare variants X X

HiFi sequencing for a truly multi-omic view of cancer

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

Cancer genomics research in action

teal blue abstract background

Complex oncogene amplifications revealed

A detailed map of structural variations in breast cancer.

Learn more

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.

Read article

blue image of cancer research cell image

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.

Read article

Sprite decoration

Explore

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

Explore resources

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.

Explore products

Talk with an expert

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.