Evidence map›Paper›PMID 38744287›Full record

ReviewCell reports methods2024

Analyzing the functional effects of DNA variants with gene editing.

Sarah Cooper, Sofia Obolenski, Andrew J Waters, Andrew R Bassett, Matthew A Coelho

Abstract readReview
In one paragraph

Review in Cell reports methods, 2024. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 12 papers.

0numbers the graph read from it
0cells of the map it votes in
12citing 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

12 citing papers in PubMed.

  1. Review
  2. Review
  3. Article
  4. Phenotype-Specific Recalibration of MAVE Data Enables Repurposing ofmedRxiv : the preprint server for health sciences · 2026
    Article
  5. Article
  6. Programmable nanobody circuits for cell selection.bioRxiv : the preprint server for biology · 2026
    Article
  7. Review
  8. Scaling perturbations: beyond genome-scale CRISPR screens.bioRxiv : the preprint server for biology · 2026
    Article
  9. Article
  10. Review
  11. Article
  12. Review
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

5 authors.

Sarah CooperCellular and Gene Editing Research, Wellcome Sanger Institute, Hinxton, UK.
Sofia ObolenskiExperimental Cancer Genetics, Wellcome Sanger Institute, Hinxton, UK; Department of Dermatology, Leiden University Medical Center, Leiden, the Netherlands.
Andrew J WatersExperimental Cancer Genetics, Wellcome Sanger Institute, Hinxton, UK.
Andrew R BassettCellular and Gene Editing Research, Wellcome Sanger Institute, Hinxton, UK. Electronic address: andrew.bassett@sanger.ac.uk.
Matthew A CoelhoCancer Genome Editing, Wellcome Sanger Institute, Hinxton, UK. Electronic address: matthew.coelho@sanger.ac.uk.

Funding

Wellcome Trust
6 · The paper itself

Abstract

Continual advancements in genomics have led to an ever-widening disparity between the rate of discovery of genetic variants and our current understanding of their functions and potential roles in disease. Systematic methods for phenotyping DNA variants are required to effectively translate genomics data into improved outcomes for patients with genetic diseases. To make the biggest impact, these approaches must be scalable and accurate, faithfully reflect disease biology, and define complex disease mechanisms. We compare current methods to analyze the function of variants in their endogenous DNA context using genome editing strategies, such as saturation genome editing, base editing and prime editing. We discuss how these technologies can be linked to high-content readouts to gain deep mechanistic insights into variant effects. Finally, we highlight key challenges that need to be addressed to bridge the genotype to phenotype gap, and ultimately improve the diagnosis and treatment of genetic diseases.

Indexed as

Gene EditingGenetic VariationAnimalsCRISPR-Cas SystemsDNAGenomicsHumansPhenotypeDNACP: biotechnologyCP: genetics

Identifiers

PMID38744287
PMCPMC11133854

What OpenQuestion holds

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LicenceCC BY
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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.