Evidence map›Paper›PMID 39606337›Full record

ArticlemedRxiv : the preprint server for health sciences2024

Mapping rare protein-coding variants on multi-organ imaging traits.

Yijun Fan, Jie Chen, Zirui Fan, Julio Chirinos, Jason L Stein, Patrick F Sullivan, Rujin Wang, Ajay Nadig, David Y Zhang, Shuai Huang and 13 more

Abstract readPreprint
PubMed Full text at PMC Publisher
In one paragraph

Article in medRxiv : the preprint server for health sciences, 2024. 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

23 authors.

Yijun FanGraduate Group in Applied Mathematics and Computational Science, University of Pennsylvania, Philadelphia, PA 19104, USA.
Jie ChenDepartment of Biostatistics, University of North Carolina at Chapel Hill, Chapel Hill, NC 27599, USA.
Zirui FanDepartment of Statistics and Data Science, University of Pennsylvania, Philadelphia, PA 19104, USA.
Julio ChirinosDivision of Cardiovascular Medicine, Hospital of the University of Pennsylvania, Philadelphia, PA 19104, USA.
Jason L SteinDepartment of Genetics, University of North Carolina at Chapel Hill, Chapel Hill, NC 27599, USA.
Patrick F SullivanDepartment of Genetics, University of North Carolina at Chapel Hill, Chapel Hill, NC 27599, USA.
Rujin WangRegeneron Genetics Center, 777 Old Saw Mill River Rd., Tarrytown, NY, 10591, USA.
Ajay NadigDepartment of Biomedical Informatics, Harvard Medical School, Boston, MA 02115, USA.
David Y ZhangDepartment of Genetics, Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA 19104, USA.
Shuai HuangDepartment of Biostatistics, University of North Carolina at Chapel Hill, Chapel Hill, NC 27599, USA.
Zhiwen JiangDepartment of Biostatistics, University of North Carolina at Chapel Hill, Chapel Hill, NC 27599, USA.
Peter Yi GuanDepartment of Biostatistics, University of North Carolina at Chapel Hill, Chapel Hill, NC 27599, USA.
Xinjie QianDepartment of Biostatistics, University of North Carolina at Chapel Hill, Chapel Hill, NC 27599, USA.
Ting LiDepartment of Biostatistics, University of North Carolina at Chapel Hill, Chapel Hill, NC 27599, USA.
Haoyue LiDepartment of Biostatistics, University of North Carolina at Chapel Hill, Chapel Hill, NC 27599, USA.
Zehui SunDepartment of Biostatistics, University of North Carolina at Chapel Hill, Chapel Hill, NC 27599, USA.
Marylyn D RitchieDepartment of Genetics, Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA 19104, USA.
Joan O'BrienScheie Eye Institute, University of Pennsylvania, Philadelphia, PA 19104, USA.
Walter WitscheyDepartment of Radiology, Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA 19104, USA.
Daniel J RaderDepartment of Genetics, Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA 19104, USA.
Tengfei LiDepartment of Radiology, University of North Carolina at Chapel Hill, Chapel Hill, NC 27599, USA.
Hongtu ZhuDepartment of Biostatistics, University of North Carolina at Chapel Hill, Chapel Hill, NC 27599, USA.
Bingxin ZhaoGraduate Group in Applied Mathematics and Computational Science, University of Pennsylvania, Philadelphia, PA 19104, USA.ORCID 0000-0002-0979-7891

Funding

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
Biostatistics for Research in Genomics and CancerT32CA106209 · NCI · UNIV OF NORTH CAROLINA CHAPEL HILL · PI JOSEPH G IBRAHIM, Naim Ur Rashid · 2004 to 2026
$4.8M
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
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
NCI NIH HHS T32 CA106209NIAMS NIH HHS R01 AR082684NIA NIH HHS RF1 AG082938NIA NIH HHS U01 AG079847
6 · The paper itself

Abstract

Human organ structure and function are important endophenotypes for clinical outcomes. Genome-wide association studies (GWAS) have identified numerous common variants associated with phenotypes derived from magnetic resonance imaging (MRI) of the brain and body. However, the role of rare protein-coding variations affecting organ size and function is largely unknown. Here we present an exome-wide association study that evaluates 596 multi-organ MRI traits across over 50,000 individuals from the UK Biobank. We identified 107 variant-level associations and 224 gene-based burden associations (67 unique gene-trait pairs) across all MRI modalities, including

Identifiers

PMID39606337
PMCPMC11601754

What Socratic 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 Socratic graph.