ArticleProceedings of the National Academy of Sciences of the United States of America2002
Digital karyotyping.
Article in Proceedings of the National Academy of Sciences of the United States of America, 2002. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 98 papers.
What it found
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The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
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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
98 citing papers in PubMed, 219 citations in OpenAlex.
- Detecting pathogenic structural variation in families with undiagnosed rare disease in a national genome project.European journal of human genetics : EJHG · 2026Article
- Genomic and fragmentomic landscapes of cell-free DNA for early cancer detection.Nature reviews. Cancer · 2025Review
- CRISPR Screening Identifies Mechanisms of Resistance to KRASG12C and SHP2 Inhibitor Combinations in Non-Small Cell Lung Cancer.Cancer research · 2023Article
- Wheat doubled haploids have a marked prevalence of chromosomal aberrations.The plant genome · 2023Article
- Sequence-Based Platforms for Discovering Biomarkers in Liquid Biopsy of Non-Small-Cell Lung Cancer.Cancers · 2023Review
- Systems Cytogenomics: Are We Ready Yet?Current genomics · 2021Article
- The Current Status of Genes and Genetic Testing in Emergency Medicine: A Narrative Review.Advanced journal of emergency medicine · 2020Review
- RNA-seq as a tool for evaluating human embryo competence.Genome research · 2019Article
- EPHA2 mutations with oncogenic characteristics in squamous cell lung cancer and malignant pleural mesothelioma.Oncogenesis · 2019Article
- Next-generation sequencing in liquid biopsy: cancer screening and early detection.Human genomics · 2019Review
- A distance-type measure approach to the analysis of copy number variation in DNA sequencing data.BMC genomics · 2019Article
- Early Noninvasive Detection of Response to Targeted Therapy in Non-Small Cell Lung Cancer.Cancer research · 2019Article
- Comprehensive genetic diagnosis of acute myeloid leukemia by next-generation sequencing.Haematologica · 2019Article
- Integrated Genomic, Epigenomic, and Expression Analyses of Ovarian Cancer Cell Lines.Cell reports · 2018Article
- Detection of aneuploidy in patients with cancer through amplification of long interspersed nucleotide elements (LINEs).Proceedings of the National Academy of Sciences of the United States of America · 2018Article
- Liquid Biopsy in the OMICS Era of Tumor Medicine.Open access journal of biomedical engineering and its applications · 2018Article
- Liquid biopsy: a step forward towards precision medicine in urologic malignancies.Molecular cancer · 2017Review
- Emerging concepts in liquid biopsies.BMC medicine · 2017Review
- Cell-free circulating tumor DNA in cancer.Chinese journal of cancer · 2016Review
- Non-invasive detection of genome-wide somatic copy number alterations by liquid biopsies.Molecular oncology · 2016Review
38 more citing papers are in PubMed but not listed here.
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
7 authors at 3 institutions in 1 country.
Funding
Abstract
Alterations in the genetic content of a cell are the underlying cause of many human diseases, including cancers. We have developed a method, called digital karyotyping, that provides quantitative analysis of DNA copy number at high resolution. This approach involves the isolation and enumeration of short sequence tags from specific genomic loci. Analysis of human cancer cells by using this method identified gross chromosomal changes as well as amplifications and deletions, including regions not previously known to be altered. Foreign DNA sequences not present in the normal human genome could also be readily identified. Digital karyotyping provides a broadly applicable means for systematic detection of DNA copy number changes on a genomic scale.
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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.