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Y M Dennis Lo, Rossa W K Chiu, Next-Generation Sequencing of Plasma/Serum DNA: An Emerging Research and Molecular Diagnostic Tool, Clinical Chemistry, Volume 55, Issue 4, 1 April 2009, Pages 607–608, https://doi.org/10.1373/clinchem.2009.123661
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Over the past decade, it has been increasingly realized that cell-free DNA and RNA molecules present in plasma and serum are valuable molecular diagnostic tools(1)(2). For example, tumor-derived(3) and fetal-derived(4) nucleic acids have been found in cancer patients and pregnant women, respectively, thus opening up clinical uses in oncology and prenatal diagnosis. A number of these applications have already been incorporated into clinical practice, such as the prenatal determination of fetal RhD status(5) and the detection and monitoring of nasopharyngeal carcinoma using plasma Epstein-Barr virus DNA measurement(6).
In contrast to its clinical applications, the characterization of circulating nucleic acids has not received as much attention. In this regard, DNA sequencing is a powerful method to address this imbalance. A number of groups have used conventional cloning and DNA sequencing techniques to detect and study circulating nucleic acids(7)(8)(9). However, such methods are labor-intensive and can generate sequence information for only a small number of molecules from a few genomic loci. The recent advent of next-generation, massively parallel sequencing technologies(10) has provided an alternative approach for the detection, measurement, and characterization of plasma nucleic acids.
