Understanding cancer variation from mechanisms to clinical insight
Characterize all types of somatic variants including structural variants and methylation with a single assay.
The complexity of cancer genomes requires methods that can see the full breadth of cancer genomic variation, from SNVs and indels to SVs, CNVs, and differential methylation. Existing methods can typically capture only a part of this variation, requiring multiple assays and technologies to see the whole picture. Long-read sequencing from PacBio allows cancer researchers to characterize the complete spectrum of somatic and germline variation, yielding a clearer view of cancer biology and helping to identify new therapeutic targets and inform clinical decision making.
Structural variants
Discover more structural variants with long reads while maintaining the accuracy needed for small variant detection.
Mutation phasing
Long reads mean the ability to resolve and assign variants to haplotypes, meaning you can differentiate between cis and trans mutations to identify compound heterozygosity.
Methylation
HiFi data includes direct detection of 5mC and 6mA methylation marks to reveal epigenetic silencing linked to treatment resistance in a single assay.
Repetitive regions
Sequence through complex repetitive regions to identify repeat expansions and microsatellite instability.
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.
Application note
Workflow for comprehensive somatic variant detection in long-read tumor/normal whole genome sequencing
The rich information provided by HiFi sequencing requires bioinformatic tools optimized for long-read data. In this application note, we outline a recommended workflow for somatic variant calling from long-read tumor/normal WGS data, and provide examples of how HiFi is able to resolve complex events through its ability to simultaneously detect structural variants, phase mutations over long distances, and profile methylation.
Publication
A detailed map of structural variation in breast cancer
The SK-BR-3 cell line is an important model of HER2+ breast cancer, which has been previously observed to contain many complex rearrangements.
In this paper, researchers apply HiFi whole genome sequencing to this cell line and uncover nearly 20,000 structural variants, the majority of which had been missed by short read sequencing.
These rearrangements included multiple nested duplications and translocations surrounding the HER2 locus that were likely accumulated sequentially, shedding light on the tumor evolution process.
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.