Cancer Genomics

Why look through the blurry lens of bulk sequencing if you can pinpoint and track the rare variants that determine cancer outcomes?

Cancer is genetically heterogeneous, with a single tumor harboring a constellation of constantly evolving genomes. The key to early detection, personalized therapy, and effective disease management lies in our ability to identify, characterize, and track conserved, rare, and de novo variant alleles and copy number variation (CNV) in pathogenic cells with extremely high sensitivity.

Next-generation omics approaches have vastly improved our understanding of cancer immune escape, metastasis, and drug resistance. Nevertheless, conventional bulk sequencing approaches reveal only the most abundant variants in a sample, and are unable to unravel the chronology of clonal evolution, which is fundamental to oncogenesis and drug resistance.

With BioSkryb’s highly accurate and scalable single-cell whole genome amplification (WGA) technology (PTA) and powerful bioinformatics platform (BaseJumper) it is possible to interrogate cohorts of individual tumor genomes to discern ultra-low-frequency single nucleotide variants (SNVs), observe copy number variation between single cells, analyze single-cell tumor mutation burden (TMB), and gain insights into minimal residual disease (MRD). This provides the actionable information needed to improve the understanding of the tumor.

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Marks
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I have worked with scientists from BioSkryb over the past year and a half. Their technology is cutting edge and produces data with amazing resolution. Breast cancer evolution described by both point mutations and copy number changes is apparent at the single cell level. Their staff have tremendous expertise and have been exceptional collaborators in generating data that will form the basis for manuscripts and grant proposals.”

Jeffrey R. Marks, PhD
Vice Chief, Division of Surgical Sciences
Professor in Surgery
Professor of Pathology
Duke University School of Medicine