Evidence map›Paper›PMID 22086080›Full record

ReviewHeredity2012

Characterising chromosome rearrangements: recent technical advances in molecular cytogenetics.

S Le Scouarnec, S M Gribble

Abstract readReview
In one paragraph

Review in Heredity, 2012. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 34 papers.

0numbers the graph read from it
0cells of the map it votes in
34citing 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

34 citing papers in PubMed.

  1. Article
  2. Review
  3. Article
  4. Review
  5. Article
  6. Article
  7. Review
  8. Article
  9. Article
  10. Cellular and genomic approaches for exploring structural chromosomal rearrangements.Chromosome research : an international journal on the molecular, supramolecular and evolutionary aspects of chromosome biology · 2020
    Review
  11. Article
  12. Review
  13. Review
  14. Article
  15. Full Karyotype Interphase Cell Analysis.The journal of histochemistry and cytochemistry : official journal of the Histochemistry Society · 2018
    Article
  16. Long-read genome sequencing identifies causal structural variation in a Mendelian disease.Genetics in medicine : official journal of the American College of Medical Genetics · 2018
    Article
  17. Article
  18. Review
  19. Article
  20. 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

2 authors.

S Le ScouarnecWellcome Trust Sanger Institute, Hinxton, Cambridge, UK. sls2@sanger.ac.uk
S M Gribble

Funding

Wellcome Trust WT098051
6 · The paper itself

Abstract

Genomic rearrangements can result in losses, amplifications, translocations and inversions of DNA fragments thereby modifying genome architecture, and potentially having clinical consequences. Many genomic disorders caused by structural variation have initially been uncovered by early cytogenetic methods. The last decade has seen significant progression in molecular cytogenetic techniques, allowing rapid and precise detection of structural rearrangements on a whole-genome scale. The high resolution attainable with these recently developed techniques has also uncovered the role of structural variants in normal genetic variation alongside single-nucleotide polymorphisms (SNPs). We describe how array-based comparative genomic hybridisation, SNP arrays, array painting and next-generation sequencing analytical methods (read depth, read pair and split read) allow the extensive characterisation of chromosome rearrangements in human genomes.

Indexed as

Chromosome AberrationsChromosome BreakpointsChromosome MappingChromosome PaintingChromosomes, HumanComparative Genomic HybridizationGenome, HumanGenome-Wide Association StudyHigh-Throughput Nucleotide SequencingHumansNeoplasmsOligonucleotide Array Sequence AnalysisPolymorphism, Single Nucleotide

Identifiers

PMID22086080
PMCPMC3238113

What OpenQuestion holds

Textmetadata
LicenceCC BY-NC-ND
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.