Evidence map›Paper›PMID 41292656›Full record

ArticlemedRxiv : the preprint server for health sciences2025

Computation and resource efficient genome-wide association analysis for large-scale imaging studies.

Zhiwen Jiang, Jason Stein, Tengfei Li, Ethan Fang, Yun Li, Patrick Sullivan, Hongtu Zhu

Abstract readPreprint
In one paragraph

Article in medRxiv : the preprint server for health sciences, 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

7 authors.

Zhiwen JiangDepartment of Biostatistics, University of North Carolina at Chapel Hill, Chapel Hill, 27599, NC, USA.
Jason SteinDepartment of Genetics, University of North Carolina at Chapel Hill, Chapel Hill, 27599, NC, USA.ORCID 0000-0003-4829-0513
Tengfei LiDepartment of Radiology, University of North Carolina at Chapel Hill, Chapel Hill, 27599, NC, USA.
Ethan FangDepartment of Biostatistics and Bioinformatics, Duke University, Durham, 27708, NC, USA.
Yun LiDepartment of Biostatistics, University of North Carolina at Chapel Hill, Chapel Hill, 27599, NC, USA.
Patrick SullivanDepartment of Genetics, University of North Carolina at Chapel Hill, Chapel Hill, 27599, NC, USA.
Hongtu ZhuDepartment of Biostatistics, University of North Carolina at Chapel Hill, Chapel Hill, 27599, NC, USA.

Funding

Preclinical CoreP50HD103573 · NICHD · UNIV OF NORTH CAROLINA CHAPEL HILL · PI Mark D Shen · 2020 to 2026
$9.7M
Beyond GWAS: High Throughput Functional Genomics & Epigenome Editing to Elucidate the Effects of Genetic Associations for SchizophreniaR01MH125236 · NIMH · DUKE UNIVERSITY · PI CRAWFORD, GREGORY E, GERSBACH, CHARLES A. · 2021 to 2025
$8.1M
Polygenic risk scores for cardiometabolic disorders: the role of blood cells immune response and evolutionary adaptationU01HG011720 · NHGRI · UNIV OF NORTH CAROLINA CHAPEL HILL · PI Yun Li, ALEXANDER P REINER · 2021 to 2026
$5.4M
AIM-AI: an Actionable, Integrated and Multiscale genetic map of Alzheimer's disease via deep learningU01AG079847 · NIA · UNIVERSITY OF TEXAS HLTH SCI CTR HOUSTON · PI Christopher A. Gaiteri, Xiaoqian Jiang · 2023 to 2026
$5.1M
Construction and Application of Comprehensive Knowledge Graphs for Alzheimer's DiseaseR01AG085581 · NIA · UNIV OF NORTH CAROLINA CHAPEL HILL · PI Yun Li, Hongtu Zhu · 2024 to 2026
$3.7M
Mapping the Causal Genetic-Imaging-Clinical Pathway for Alzheimer's DiseaseRF1AG082938 · NIA · UNIV OF NORTH CAROLINA CHAPEL HILL · PI Bingxin Zhao, Hongtu Zhu · 2023 to 2026
$3.6M
AD GxE: In vivo and in vitro modeling of gene x environment interactionsU01AG088667 · NIA · UNIV OF NORTH CAROLINA CHAPEL HILL · PI Jason Louis Stein · 2024 to 2026
$2.2M
A comprehensive imaging genetics framework for osteoarthritis researchR01AR082684 · NIAMS · UNIV OF NORTH CAROLINA CHAPEL HILL · PI NIETHAMMER, MARC, ZHU, HONGTU · 2024 to 2025
$1.4M
NHGRI NIH HHS U01 HG011720NIAMS NIH HHS R01 AR082684NIA NIH HHS R01 AG085581NIA NIH HHS RF1 AG082938NIA NIH HHS U01 AG079847NIA NIH HHS U01 AG088667NICHD NIH HHS P50 HD103573NIMH NIH HHS R01 MH125236
6 · The paper itself

Abstract

Imaging genetics links genetic variations to brain structures and functions, but the computational challenges posed by high-dimensional imaging and genetic data are significant. In voxel-level genome-wide association studies, we introduce a Representation learning-based Voxel-level Genetic Analysis (RVGA) framework that reduces computational time and storage burden by over 200 times. RVGA enhances statistical power by denoising images and shares minimal datasets of summary statistics for associations across the whole genome of the entire image for secondary analyses. Additionally, it introduces a unified estimator for voxel heritability, genetic correlations between voxels, and cross-trait genetic correlations between voxels and non-imaging phenotypes. Applying RVGA to hippocampus shape and white matter microstructure in the UK Biobank (n = 53,454) reveals 39 and 275 novel loci, respectively. We identify heterogeneity in genetic architecture across images and subregions that share genetic bases with 14 brain-related phenotypes, such as the genetic correlation between the hippocampus and educational attainment, and between the anterior corona radiata and schizophrenia. RVGA replicates known genetic associations and uncovers new discoveries.

Indexed as

genetic correlationheritabilityimaging geneticslow-dimensional representationsvoxel-level genome-wide association analysis

Identifiers

PMID41292656
PMCPMC12642728

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.