Evidence map›Paper›PMID 39533047›Full record

ReviewNature genetics2024

Engineering structural variants to interrogate genome function.

Jonas Koeppel, Juliane Weller, Thomas Vanderstichele, Leopold Parts

Abstract readReview
PubMed Publisher
In one paragraph

Review in Nature genetics, 2024. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 6 papers.

0numbers the graph read from it
0cells of the map it votes in
6citing 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

6 citing papers in PubMed.

  1. Article
  2. Article
  3. Review
  4. Review
  5. Article
  6. 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

4 authors.

Jonas KoeppelWellcome Sanger Institute, Hinxton, UK.ORCID http://orcid.org/0000-0003-1306-3994
Juliane WellerWellcome Sanger Institute, Hinxton, UK.ORCID http://orcid.org/0000-0002-1310-6168
Thomas VandersticheleWellcome Sanger Institute, Hinxton, UK.
Leopold PartsWellcome Sanger Institute, Hinxton, UK. leopold.parts@sanger.ac.uk.ORCID http://orcid.org/0000-0002-2618-670X

Funding

Wellcome Trust (Wellcome) 220540/Z/20/A
6 · The paper itself

Abstract

Structural variation, such as deletions, duplications, inversions and complex rearrangements, can have profound effects on gene expression, genome stability, phenotypic diversity and disease susceptibility. Structural variants can encompass up to millions of bases and have the potential to rearrange substantial segments of the genome. They contribute considerably more to genetic diversity in human populations and have larger effects on phenotypic traits than point mutations. Until recently, our understanding of the effects of structural variants was driven mainly by studying naturally occurring variation. New genome-engineering tools capable of generating deletions, insertions, inversions and translocations, together with the discovery of new recombinases and advances in creating synthetic DNA constructs, now enable the design and generation of an extended range of structural variation. Here, we discuss these tools and examples of their application and highlight existing challenges that will need to be overcome to fully harness their potential.

Indexed as

Genetic EngineeringAnimalsGenetic VariationGenomeGenome, HumanGenomic Structural VariationHumans

Identifiers

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.