Evidence map›Paper›PMID 42620576›Full record

ArticleResearch square2026

Structural variants contribute substantially to complex trait heritability.

Dat Thanh Nguyen, Alexey A Shadrin, Nadine Parker, Julian Fuhrer, Nam S Vo, Anders M Dale, Ole A Andreassen, Oleksandr Frei

Abstract readPreprint
PubMed Full text at PMC Publisher
In one paragraph

Article in Research square, 2026. 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

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

8 authors.

Dat Thanh NguyenCentre for Precision Psychiatry, Division of Mental Health and Addiction, Institute of Clinical Medicine, University of Oslo, Oslo, Norway.
Alexey A ShadrinCentre for Precision Psychiatry, Division of Mental Health and Addiction, Institute of Clinical Medicine, University of Oslo, Oslo, Norway.
Nadine ParkerCentre for Precision Psychiatry, Division of Mental Health and Addiction, Institute of Clinical Medicine, University of Oslo, Oslo, Norway.
Julian FuhrerCentre for Precision Psychiatry, Division of Mental Health and Addiction, Institute of Clinical Medicine, University of Oslo, Oslo, Norway.
Nam S VoVinUni Big Data Research Institute, VinUniversity, Hanoi, Vietnam.
Anders M DaleCenter for Multimodal Imaging and Genetics, J. Craig Venter Institute, La Jolla, CA, USA.
Ole A AndreassenCentre for Precision Psychiatry, Division of Mental Health and Addiction, Institute of Clinical Medicine, University of Oslo, Oslo, Norway.
Oleksandr FreiCentre for Precision Psychiatry, Division of Mental Health and Addiction, Institute of Clinical Medicine, University of Oslo, Oslo, Norway.

Funding

OTA-21-015A Post-Acute Sequelae of SARS-CoV-2 Infection Initiative: NYU Langone Health Clinical Science Core, Data Resource Core, and PASC Biorepository CoreOT2HL161847 · NHLBI · NEW YORK UNIVERSITY SCHOOL OF MEDICINE · PI GROSS, RACHEL SHARON, HORWITZ, LEORA · 2021 to 2025
$651.0M
ABCD-USA Consortium: Data Analysis, Informatics and Resource CenterU24DA041123 · NIDA · UNIVERSITY OF CALIFORNIA, SAN DIEGO · PI ANDERS M DALE · 2015 to 2026
$51.5M
Healthy Brain and Child Development National Consortium Data Coordinating CenterU24DA055330 · NIDA · WASHINGTON UNIVERSITY · PI ANDERS M DALE, Damien A Fair · 2021 to 2026
$34.6M
The VETSA Longitudinal MRI Twin Study of Aging (VETSA MRI 4)R01AG076838 · NIA · UNIVERSITY OF CALIFORNIA, SAN DIEGO · PI ANDERS M DALE, Jeremy A Elman · 2022 to 2026
$8.7M
NHLBI NIH HHS OT2 HL161847NIA NIH HHS R01 AG076838NIDA NIH HHS U24 DA041123NIDA NIH HHS U24 DA055330
6 · The paper itself

Abstract

Background: Despite accumulating evidence that structural variants (SVs) exert disproportionate functional effects, their genome-wide contribution to complex trait heritability has not yet been systematically quantified. Here, we introduce MiXeR-SV, a tool that integrates long-read-derived SVs from existing reference catalogs with genome-wide association summary statistics to quantify SV heritability and enrichment. Results: Applying MiXeR-SV to 105 complex traits, we identify 31 traits with significant enrichment (Bonferroni-corrected Conclusions: Our quantification of SVs contributions to genetic architectures has significant implications for genetic prediction and fine-mapping of human complex traits and common diseases.

Indexed as

complex traitsgenetic architecturegenome-wide association studyheritability enrichmentlong-read sequencingmissing heritabilitystructural variants

Identifiers

PMID42620576
PMCPMC13484855

What OpenQuestion holds

Textmetadata
LicenceCC BY
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.