The feasibility of using liquid biopsies as a complementary assay for copy number aberration profiling in routinely collected paediatric cancer patient samples

European Journal of Cancer(2022)

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摘要
•Overall, concordance between copy number aberrations in tissue and plasma is good.•Discordance was associated with low-quality cfDNA samples and localised disease.•Copy number aberrations can be unique to either tissue DNA or tumour DNA.•No false-positives or false-negatives were seen for MYCN detection in neuroblastoma cases.
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关键词
Liquid biopsy,cfDNA,Biomarker,Copy number aberrations,Shallow whole-genome sequencing
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