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Can I read Optimizing Nanopore sequencing-based detection of structural variants enables individualized circulating tumor DNA-based disease monitoring in cancer patients on EtoBox?

Optimizing Nanopore sequencing-based detection of structural variants enables individualized circulating tumor DNA-based disease monitoring in cancer patients by Valle-Inclan, Jose Espejo (author);Stangl, Christina (author);de Jong, Anouk C. (author);van Dessel, Lisanne F. (author);van Roosmalen, Markus J. (author);Helmijr, Jean C. A. (author);Renkens, Ivo (author);Janssen, Roel (author);de Blank, Sam (author);de Witte, Chris J. (author);Martens, John W. M. (author);Jansen, Maurice P. H. M. (author);Lolkema, Martijn P. (author);Kloosterman, Wigard P. (author) is a Biochemistry, Genetics and Molecular Biology article available to read on EtoBox.

What is Optimizing Nanopore sequencing-based detection of structural variants enables individualized circulating tumor DNA-based disease monitoring in cancer patients about?

Here, we describe a novel approach for rapid discovery of a set of tumor-specific genomic structural variants (SVs), based on a combination of low coverage cancer genome sequencing using Oxford Nanopore with an SV calling and filtering pipeline. We applied the method to tumor samples of high-grade ovarian and prostate cancer patients and validated on average ten somatic SVs per patient with breakpoint-spanning PCR mini-amplicons. These SVs could be quantified in ctDNA samples of patients with metastatic prostate cancer using a digital PCR assay. The results suggest that SV dynamics correlate with and may improve existing treatment-response biomarkers such as PSA. https://github.com/UMCUGenetics/SHARC. ## Supplementary Information The online version contains supplementary material available at 10.1186/s13073-021-00899-7.

Who reads Optimizing Nanopore sequencing-based detection of structural variants enables individualized circulating tumor DNA-based disease monitoring in cancer patients?

It is typically read by researchers, students, and practitioners in Biochemistry, Genetics and Molecular Biology.

Author
Valle-Inclan, Jose Espejo (author);Stangl, Christina (author);de Jong, Anouk C. (author);van Dessel, Lisanne F. (author);van Roosmalen, Markus J. (author);Helmijr, Jean C. A. (author);Renkens, Ivo (author);Janssen, Roel (author);de Blank, Sam (author);de Witte, Chris J. (author);Martens, John W. M. (author);Jansen, Maurice P. H. M. (author);Lolkema, Martijn P. (author);Kloosterman, Wigard P. (author)
Publisher
Springer Science and Business Media LLC
Published
2021
Language
EN
Field
Biochemistry, Genetics and Molecular Biology (Life Sciences)

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