Assessing aneuploidy with repetitive element sequencing.

doi:10.1073/pnas.1910041117

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Article

Assessing aneuploidy with repetitive element sequencing.

Proceedings of the National Academy of Sciences of the United States of America - 3 Mar 2020

Douville Christopher, Cohen Joshua D, Ptak Janine, Popoli Maria, Schaefer Joy, Silliman Natalie, Dobbyn Lisa, Schoen Robert E, Tie Jeanne, Gibbs Peter, Goggins Michael, Wolfgang Christopher L, Wang Tian-Li, Shih Ie-Ming, Karchin Rachel, Lennon Anne Marie, Hruban Ralph H, Tomasetti Cristian, Bettegowda Chetan, Kinzler Kenneth W, Papadopoulos Nickolas, Vogelstein Bert

Abstract excerpt

We report a sensitive PCR-based assay called Repetitive Element AneupLoidy Sequencing System (RealSeqS) that can detect aneuploidy in samples containing as little as 3 pg of DNA. Using a single primer pair, we amplified ∼350,000 amplicons distributed throughout the genome. Aneuploidy was detected in 49% of liquid biopsies from a total of 883 nonmetastatic, clinically detected cancers of the colorectum, esophagus,...

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PMID: 32075918
DOI: 10.1073/pnas.1910041117
PMCID: PMC7060727

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