Genome Biology | |
Oncogene Concatenated Enriched Amplicon Nanopore Sequencing for rapid, accurate, and affordable somatic mutation detection | |
Ping Song1  Lauren Y. Cheng1  Mitesh J. Borad2  Lawrence Kwong3  Sherry X. Chen4  Deepak Thirunavukarasu4  David Yu Zhang5  Daniel J. Turner6  Phillip James6  | |
[1] Department of Bioengineering, Rice University, Houston, TX, USA;Department of Oncology, Mayo Clinic, Phoenix, AZ, USA;Department of Translational Molecular Pathology, The University of Texas MD Anderson Cancer Center, Houston, TX, USA;NuProbe USA Inc, Houston, TX, USA;NuProbe USA Inc, Houston, TX, USA;Department of Bioengineering, Rice University, Houston, TX, USA;Oxford Nanopore Technologies, Oxford, UK; | |
关键词: Nanopore Sequencing; Cancer; Mutation detection; | |
DOI : 10.1186/s13059-021-02449-1 | |
来源: Springer | |
【 摘 要 】
We develop the Oncogene Concatenated Enriched Amplicon Nanopore Sequencing (OCEANS) method, in which variants with low variant allele frequency (VAFs) are amplified and subsequently concatenated for Nanopore Sequencing. OCEANS allows accurate detection of somatic mutations with VAF limits of detection between 0.05 and 1%. We construct 4 distinct multi-gene OCEANS panels targeting recurrent mutations in acute myeloid leukemia, melanoma, non-small- cell lung cancer, and hepatocellular carcinoma and validate them on clinical samples. By demonstrating detection of low VAF single nucleotide variant mutations using Nanopore Sequencing, OCEANS is poised to enable same-day clinical sequencing panels.
【 授权许可】
CC BY
【 预 览 】
Files | Size | Format | View |
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RO202110140929887ZK.pdf | 1763KB | download |