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Methods Mol Biol ; 2621: 111-126, 2023.
Article in English | MEDLINE | ID: mdl-37041443

ABSTRACT

Although discovered in the 1940s (Mandel and Metais, C R Seances Soc Biol Fil 142:241-243, 1948), cell-free DNA has only recently become a tool practical for use in clinical settings. The challenges associated with detection of circulating tumor DNA (ctDNA) in patient plasma are many and exist in the pre-analytical, analytical, and post-analytical periods. Initiation of a ctDNA program in a small academic clinical laboratory setting can be challenging. Thus, cost-effective, fast methods should be leveraged to promote a self-supporting system. Any assay should be based on clinical utility and have the potential to adapt in order to maintain relevance in a rapidly developing genomic landscape. Herein is described one of many approaches to ctDNA mutation testing - a massively parallel sequencing (MPS) method that is widely applicable and relatively easy to perform. Sensitivity and specificity are enhanced by unique molecular identification tagging and deep sequencing.


Subject(s)
Circulating Tumor DNA , Neoplasms , Humans , Precision Medicine/methods , Liquid Biopsy , Circulating Tumor DNA/genetics , High-Throughput Nucleotide Sequencing/methods
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