ArticleProceedings of the National Academy of Sciences of the United States of America2020
Assessing aneuploidy with repetitive element sequencing.
Article in Proceedings of the National Academy of Sciences of the United States of America, 2020. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 52 papers, 1 of them a synthesis that pooled it.
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Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.
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Who cites it
52 citing papers in PubMed, 1 synthesis or guideline pooled it, 78 citations in OpenAlex.
- Pooled it
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- Epigenomic modifications define chromatin states to regulate cell-free DNA fragmentomics.Nature communications · 2026Article
- A scalable deep-learning framework for cancer detection using cell-free DNA shallow whole-genome sequencing.Science advances · 2026Article
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- Changes in sequencing technology used for preimplantation genetic testing for aneuploidy.Journal of assisted reproduction and genetics · 2025Review
- Cell-free DNA testing for the detection and prognosis prediction of pancreatic cancer.Nature communications · 2025Article
- Integrated Spatial Analysis of Ovarian Precancerous Lesions.bioRxiv : the preprint server for biology · 2025Article
- Genomic and fragmentomic landscapes of cell-free DNA for early cancer detection.Nature reviews. Cancer · 2025Review
- Noninvasive Multicancer Detection Using DNA Hypomethylation of LINE-1 Retrotransposons.Clinical cancer research : an official journal of the American Association for Cancer Research · 2025Article
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- A perspective review on the systematic implementation of ctDNA in phase I clinical trial drug development.Journal of experimental & clinical cancer research : CR · 2025Review
- Serous tubal intraepithelial carcinoma-looking into the earliest events of ovarian cancer development.Academia oncology · 2025Article
- Liquid Biopsy for Spinal Tumors: On the Frontiers of Clinical Application.Global spine journal · 2025Article
Corrections and comments
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Authors and funding
22 authors at 4 institutions in 2 countries.
Funding
Abstract
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, liver, lung, ovary, pancreas, breast, or stomach. Combining aneuploidy with somatic mutation detection and eight standard protein biomarkers yielded a median sensitivity of 80% in these eight cancer types, while only 1% of 812 healthy controls scored positive.
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Registered trials
Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.