Evidence map›Paper›PMID 31324840›Full record

ArticleScientific reports2019

A direct comparison of interphase FISH versus low-coverage single cell sequencing to detect aneuploidy reveals respective strengths and weaknesses.

Grasiella A Andriani, Elaine Maggi, Daniel Piqué, Samuel E Zimmerman, Moonsook Lee, Wilber Quispe-Tintaya, Alexander Maslov, Judith Campisi, Jan Vijg, Jessica C Mar and 1 more

Abstract readComparative StudyEvaluation Study
In one paragraph

Article in Scientific reports, 2019. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 13 papers.

0numbers the graph read from it
0cells of the map it votes in
13citing 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

13 citing papers in PubMed.

  1. Somatic mutations and genome mosaicism in aging and disease.Experimental & molecular medicine · 2026
    Review
  2. Article
  3. Quantitative FISHing: Implications for Chromosomal Analysis.Methods in molecular biology (Clifton, N.J.) · 2024
    Article
  4. Chromosome instability and aneuploidy in the mammalian brain.Chromosome research : an international journal on the molecular, supramolecular and evolutionary aspects of chromosome biology · 2023
    Review
  5. Article
  6. Article
  7. Review
  8. Article
  9. Article
  10. Article
  11. Review
  12. Aneuploidy: An Opportunity Within Single-Cell RNA Sequencing Analysis.Biocell : official journal of the Sociedades Latinoamericanas de Microscopia Electronica ... et. al · 2021
    Article
  13. Article
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

11 authors.

Grasiella A AndrianiDepartment of Genetics, Albert Einstein College of Medicine, Bronx, NY, 10461, USA.
Elaine MaggiDepartment of Genetics, Albert Einstein College of Medicine, Bronx, NY, 10461, USA.
Daniel PiquéDepartment of Epidemiology and Population Health, Albert Einstein College of Medicine, Bronx, NY, 10461, USA.
Samuel E ZimmermanDepartment of Epidemiology and Population Health, Albert Einstein College of Medicine, Bronx, NY, 10461, USA.
Moonsook LeeDepartment of Genetics, Albert Einstein College of Medicine, Bronx, NY, 10461, USA.
Wilber Quispe-TintayaDepartment of Genetics, Albert Einstein College of Medicine, Bronx, NY, 10461, USA.
Alexander MaslovDepartment of Genetics, Albert Einstein College of Medicine, Bronx, NY, 10461, USA.
Judith CampisiBuck Institute for Research on Aging, 8001 Redwood Boulevard, Novato, California, USA.
Jan VijgDepartment of Genetics, Albert Einstein College of Medicine, Bronx, NY, 10461, USA.
Jessica C MarDepartment of Epidemiology and Population Health, Albert Einstein College of Medicine, Bronx, NY, 10461, USA.
Cristina MontagnaDepartment of Genetics, Albert Einstein College of Medicine, Bronx, NY, 10461, USA. cristina.montagna@einstein.yu.edu.

Funding

WORD PROCESSORP30CA013330 · NCI · YESHIVA UNIVERSITY · PI THOMAS E ROHAN · 1985 to 2026
$111.2M
THE IMPACT OF CELLULAR DEFENSE ON THE ROLE OF Ku80 IN GENOME MAINTENANCE AND LONGP01AG017242 · NIA · UNIVERSITY OF TEXAS HLTH SCI CTR SAN ANT · PI VIJG, JAN · 1999 to 2023
$46.1M
NCI NIH HHS P30 CA013330NIA NIH HHS P01 AG017242
6 · The paper itself

Abstract

Aneuploidy has been reported to occur at remarkably high levels in normal somatic tissues using Fluorescence In Situ Hybridization (FISH). Recently, these reports were contradicted by single-cell low-coverage whole genome sequencing (scL-WGS) analyses, which showed aneuploidy frequencies at least an order of magnitude lower. To explain these seemingly contradictory findings, we used both techniques to analyze artificially generated mock aneuploid cells and cells with natural random aneuploidy. Our data indicate that while FISH tended to over-report aneuploidies, a modified 2-probe approach can accurately detect low levels of aneuploidy. Further, scL-WGS tends to underestimate aneuploidy levels, especially in a polyploid background.

Indexed as

AneuploidySingle-Cell AnalysisAnimalsCerebral CortexFibroblastsHepatocytesHumansIn Situ Hybridization, FluorescenceInterphaseKaryotypingMiceNeuronsPolyploidyReproducibility of ResultsSensitivity and SpecificityWhole Genome Sequencing

Identifiers

PMID31324840
PMCPMC6642082

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Registered trials

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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.