Evidence map›Paper›PMID 12566408›Full record

ArticleGenome research2003

Whole genome analysis of genetic alterations in small DNA samples using hyperbranched strand displacement amplification and array-CGH.

José M Lage, John H Leamon, Tanja Pejovic, Stefan Hamann, Michelle Lacey, Deborah Dillon, Richard Segraves, Bettina Vossbrinck, Antonio González, Daniel Pinkel and 3 more

Open access · bronzeAbstract readComparative StudyEvaluation Study
In one paragraph

Article in Genome research, 2003. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 94 papers.

0numbers the graph read from it
0cells of the map it votes in
94citing papers in PubMed
–field-weighted citation impact
1 · What the graph read from it

What it found

Each row is one number read from the abstract, on the scale the paper reported it, with its interval. Left of the dashed line favours the treatment, right favours the comparator. Under each row is the sentence it came from. New to these charts? A ten-minute tutorial.

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.

2 · The registry

The trial behind it

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.

Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.

3 · Its place in the literature

Who cites it

94 citing papers in PubMed, 265 citations in OpenAlex.

  1. Article
  2. Article
  3. Article
  4. Article
  5. Review
  6. Article
  7. Article
  8. Article
  9. Article
  10. Article
  11. Review
  12. Article
  13. Article
  14. Article
  15. Article
  16. Article
  17. Article
  18. Simple Bulk Readout of Digital Nucleic Acid Quantification Assays.Journal of visualized experiments : JoVE · 2015
    Article
  19. Article
  20. Article

34 more citing papers are in PubMed but not listed here.

4 · The record

Corrections and comments

PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.

5 · Who and what money

Authors and funding

13 authors at 2 institutions in 2 countries.

José M LageDepartment of Pathology, Yale University School of Medicine, New Haven, Connecticut 06510, USA.
John H Leamon
Tanja Pejovic
Stefan Hamann
Michelle Lacey
Deborah Dillon
Richard Segraves
Bettina Vossbrinck
Antonio González
Daniel Pinkel
Donna G Albertson
Jose Costa
Paul M Lizardi
Cancer Research Institute · USYale University · US

Funding

GENOME WIDE ANALYSIS OF DNA COPY NUMBER BY ARRAYR01CA083040 · NCI · UNIVERSITY OF CALIFORNIA SAN FRANCISCO · PI PINKEL, DANIEL · 1999 to 2001
$2.0M
YALE MICROARRAY RESOURCEU24DK058776 · NIDDK · YALE UNIVERSITY · PI WILLIAMS, KENNETH ROBERT · 2000 to 2002
$1.6M
CANCER RISK DETECTION BY MUTATIONAL LOAD DISTRIBUTION ANU01CA085065 · NCI · YALE UNIVERSITY · PI COSTA, JOSE C · 1999 to 2001
$902k
MESSENGER RNA PROFILING BY SINGLE MOLECULE COUNTINGR33CA081671 · NCI · YALE UNIVERSITY · PI LIZARDI, PAUL M. · 1999 to 2001
$639k
NCI NIH HHS CA81671-02NCI NIH HHS CA83040NCI NIH HHS CA85065-03NIDDK NIH HHS 5 U24 DK58776
6 · The paper itself

Abstract

Structural genetic alterations in cancer often involve gene loss or gene amplification. With the advent of microarray approaches for the analysis of the genome, as exemplified by array-CGH (Comparative Genomic Hybridization), scanning for gene-dosage alterations is limited only by issues of DNA microarray density. However, samples of interest to the pathologist often comprise small clusters of just a few hundred cells, which do not provide sufficient DNA for array-CGH analysis. We sought to develop a simple method that would permit amplification of the whole genome without the use of thermocycling or ligation of DNA adaptors, because such a method would lend itself to the automated processing of a large number of tissue samples. We describe a method that permits the isothermal amplification of genomic DNA with high fidelity and limited sequence representation bias. The method is based on strand displacement reactions that propagate by a hyperbranching mechanism, and generate hundreds, or even thousands, of copies of the genome in a few hours. Using whole genome isothermal amplification, in combination with comparative genomic hybridization on cDNA microarrays, we demonstrate the ability to detect gene losses in yeast and gene dosage imbalances in human breast tumor cell lines. Although sequence representation bias in the amplified DNA presents potential problems for CGH analysis, these problems have been overcome by using amplified DNA in both control and tester samples. Gene-dosage alterations of threefold or more can be observed with high reproducibility with as few as 1000 cells of starting material.

Indexed as

GenomeBreast NeoplasmsCell LineChromosomes, Artificial, BacterialDNADNA, ComplementaryDNA, FungalGene Expression ProfilingGenetic MarkersGenome, FungalHumansLymphocytesNucleic Acid Amplification TechniquesNucleic Acid HybridizationOligonucleotide Array Sequence AnalysisPolyploidyDNADNA, ComplementaryDNA, FungalGenetic Markers

Identifiers

PMID12566408
PMCPMC420367
OpenAlexW2153125376

What OpenQuestion holds

Textmetadata
Read underepoch 390

Registered trials

None linked

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.