Identification and use of personalized genomic markers for monitoring circulating tumor DNA

Research output: Chapter in Book/Report/Conference proceedingBook chapter


Digital PCR techniques are ideally suited for accurately quantifying trace amounts of target DNA sequences, such as tumor-derived mutant DNA that is present in the blood circulation of patients with cancer. Here, we describe an approach marrying low-coverage whole-genome sequencing of tumor tissues, to enumerate chromosomal rearrangement breakpoints, together with droplet digital PCR (ddPCR)-based personalized rearrangement assays to cost-effectively monitor circulating tumor DNA levels at multiple time-points during the clinical course. The method is generally applicable to essentially any cancer patient, as all cancers harbor unstable genomes, and may have uses for measuring minimal residual disease, response to therapy, and early detection of metastasis.


Research areas and keywords

Subject classification (UKÄ) – MANDATORY

  • Cancer and Oncology
  • Medical Genetics


  • Cell-free circulating tumor DNA, Droplet digital PCR, Liquid biopsy, Noninvasive diagnosis, Personalized medicine, Whole-genome sequencing
Original languageEnglish
Title of host publicationMethods in Molecular Biology
PublisherHumana Press
Number of pages20
Publication statusPublished - 2018 Jan 1
Publication categoryResearch

Publication series

NameMethods in Molecular Biology
ISSN (Print)1064-3745

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