Evidence map›Paper›PMID 41040191›Full record

ArticlebioRxiv : the preprint server for biology2025

Recurrent structural variation and recent turnover at the 17q21.31 locus in humans and great apes.

Samvardhini Sridharan, Runyang Nicolas Lou, Scott Ferguson, Joana L Rocha, Rishi De-Kayne, Matthew W Mitchell, Alison N Killilia, Victor Borda, Santiago G Medina-Munoz, Simon Gravel and 3 more

Abstract readPreprint
PubMed Full text at PMC Publisher
In one paragraph

Article in bioRxiv : the preprint server for biology, 2025. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Not yet cited in PubMed.

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

0 citing papers in PubMed.

No citing paper in PubMed yet.

4 · The record

Corrections and comments

5 · Who and what money

Authors and funding

13 authors.

Samvardhini SridharanDepartment of Molecular and Cell Biology, University of California, Berkeley, CA, USA.
Runyang Nicolas LouDepartment of Integrative Biology, University of California, Berkeley, CA, USA.
Scott FergusonDepartment of Integrative Biology, University of California, Berkeley, CA, USA.
Joana L RochaDepartment of Integrative Biology, University of California, Berkeley, CA, USA.
Rishi De-KayneDepartment of Integrative Biology, University of California, Berkeley, CA, USA.
Matthew W MitchellCoriell Institute for Medical Research, Camden, NJ 08103.
Alison N KilliliaDepartment of Molecular and Cell Biology, University of California, Berkeley, CA, USA.
Victor BordaUniversity of Maryland School of Medicine, Baltimore, MD, USA.
Santiago G Medina-MunozCINVESTAV, Mexico City, Mexico.
Simon GravelDepartment of Human Genetics, McGill University, Montreal, Canada.
CAAPA2 PopGen Working Group
Brenna HennDepartment of Anthropology, University of California, Davis, CA, USA.
Peter H SudmantDepartment of Molecular and Cell Biology, University of California, Berkeley, CA, USA.ORCID 0000-0002-9573-8248

Funding

The evolution and diversity of mutation, molecular fidelity, and genome structureR35GM142916 · NIGMS · UNIVERSITY OF CALIFORNIA BERKELEY · PI Peter Heshedahl Sudmant · 2021 to 2026
$2.5M
A compendium of complete primate reference genomes to facilitate conservation, genomics, and ecologyR01HG013017 · NHGRI · UNIVERSITY OF CALIFORNIA BERKELEY · PI Erik Garrison, Matthew William Mitchell · 2023 to 2026
$1.9M
NHGRI NIH HHS R01 HG013017NIGMS NIH HHS R35 GM142916
6 · The paper itself

Abstract

The 17q21.31 locus in humans harbors several complex structural haplotypes including a ~970kb inversion. Different inversion haplotypes have been associated with susceptibility to microdeletions causing Koolen-de Vries syndrome and variation in fecundity and recombination rates. Here, using 210 haplotype-resolved human genome assemblies and pangenome graph-based approaches we characterize 11 distinct structural haplotypes, several of which have not been previously described. Extending our analyses to a set of haplotype-resolved great-ape genomes, we characterize the structure of an independent inversion in chimpanzees which extends an additional 650kb, encompasses 5 additional genes, and is ~2 million years younger than the human inversion. We further determine that gorillas exhibit an independent duplication of the

Identifiers

PMID41040191
PMCPMC12485747

What OpenQuestion holds

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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.