Evidence map›Paper›PMID 39121701›Full record

ReviewCurrent opinion in genetics & development2024

Deciphering the role of structural variation in human evolution: a functional perspective.

Charikleia Karageorgiou, Omer Gokcumen, Megan Y Dennis

Abstract readReview
In one paragraph

Review in Current opinion in genetics & development, 2024. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 9 papers.

0numbers the graph read from it
0cells of the map it votes in
9citing 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

9 citing papers in PubMed.

  1. Article
  2. Article
  3. Article
  4. Article
  5. Article
  6. Review
  7. Article
  8. Review
  9. Human-specific gene expansions contribute to brain evolution.bioRxiv : the preprint server for biology · 2025
    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

3 authors.

Charikleia KarageorgiouDepartment of Biological Sciences, University at Buffalo, 109 Cooke Hall, Buffalo, NY 14260, USA. Electronic address: https://twitter.com/@evobioclio.
Omer GokcumenDepartment of Biological Sciences, University at Buffalo, 109 Cooke Hall, Buffalo, NY 14260, USA.
Megan Y DennisDepartment of Biochemistry & Molecular Medicine, Genome Center, and MIND Institute, University of California, Davis, CA 95616, USA. Electronic address: mydennis@ucdavis.edu.

Funding

Human gene duplications in neurodevelopment and diseaseR01MH132818 · NIMH · UNIVERSITY OF CALIFORNIA AT DAVIS · PI DENNIS, MEGAN Y · 2023 to 2024
$1.4M
Evolutionary and functional impact of common genomic structural variationsR35GM156519 · NIGMS · STATE UNIVERSITY OF NEW YORK AT BUFFALO · PI Omer Gokcumen · 2025 to 2026
$887k
NIGMS NIH HHS R35 GM156519NIMH NIH HHS R01 MH132818
6 · The paper itself

Abstract

Advances in sequencing technologies have enabled the comparison of high-quality genomes of diverse primate species, revealing vast amounts of divergence due to structural variation. Given their large size, structural variants (SVs) can simultaneously alter the function and regulation of multiple genes. Studies estimate that collectively more than 3.5% of the genome is divergent in humans versus other great apes, impacting thousands of genes. Functional genomics and gene-editing tools in various model systems recently emerged as an exciting frontier - investigating the wide-ranging impacts of SVs on molecular, cellular, and systems-level phenotypes. This review examines existing research and identifies future directions to broaden our understanding of the functional roles of SVs on phenotypic innovations and diversity impacting uniquely human features, ranging from cognition to metabolic adaptations.

Indexed as

Evolution, MolecularGenome, HumanAnimalsBiological EvolutionGene EditingGenomicsGenomic Structural VariationHominidaeHumansPhenotype

Identifiers

PMID39121701
PMCPMC11485010

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.