Evidence map›Paper›PMID 40373737›Full record

ArticleCell genomics2025

scPrediXcan integrates deep learning methods and single-cell data into a cell-type-specific transcriptome-wide association study framework.

Yichao Zhou, Temidayo Adeluwa, Lisha Zhu, Sofia Salazar-Magaña, Sarah Sumner, Hyunki Kim, Saideep Gona, Festus Nyasimi, Rohit Kulkarni, Joseph E Powell and 4 more

Abstract read
In one paragraph

Article in Cell genomics, 2025. 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.

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4 · The record

Corrections and comments

5 · Who and what money

Authors and funding

14 authors.

Yichao ZhouCommittee of Genetic, Genomics, and Systems Biology, University of Chicago, Chicago, IL 60637, USA.
Temidayo AdeluwaCommittee of Genetic, Genomics, and Systems Biology, University of Chicago, Chicago, IL 60637, USA.
Lisha ZhuSection of Genetic Medicine, Department of Medicine, University of Chicago, Chicago, IL 60637, USA.
Sofia Salazar-MagañaSection of Genetic Medicine, Department of Medicine, University of Chicago, Chicago, IL 60637, USA.
Sarah SumnerSection of Genetic Medicine, Department of Medicine, University of Chicago, Chicago, IL 60637, USA.
Hyunki KimDepartment of Medicine, Harvard Medical School, Boston, MA 02115, USA.
Saideep GonaCommittee of Genetic, Genomics, and Systems Biology, University of Chicago, Chicago, IL 60637, USA.
Festus NyasimiDepartment of Human Genetics, University of Chicago, Chicago, IL 60637, USA.
Rohit KulkarniDepartment of Medicine, Harvard Medical School, Boston, MA 02115, USA.
Joseph E PowellUNSW Cellular Genomics Futures Institute, University of New South Wales, Sydney, NSW 2052, Australia; Translational Genomics, Garvan Institute of Medical Research, Sydney, NSW 2010, Australia.
Ravi MadduriData Science and Learning Division, Argonne National Laboratory, Chicago, IL 60439, USA.
Boxiang LiuDepartment of Pharmacy and Pharmaceutical Sciences, National University of Singapore, Singapore 119077, Singapore.
Mengjie ChenSection of Genetic Medicine, Department of Medicine, University of Chicago, Chicago, IL 60637, USA. Electronic address: mengjiechen@uchicago.edu.
Hae Kyung ImSection of Genetic Medicine, Department of Medicine, University of Chicago, Chicago, IL 60637, USA. Electronic address: haky@uchicago.edu.

Funding

Pilot and Feasibility ProgramP30DK020595 · NIDDK · UNIVERSITY OF CHICAGO · PI Raghavendra G Mirmira · 2013 to 2026
$20.9M
A Framework for Translating Polygenic Findings Related to Alcohol Use Disorder Across SpeciesR01AA029688 · NIAAA · UNIVERSITY OF CALIFORNIA, SAN DIEGO · PI Hae Kyung Im, Abraham A Palmer · 2022 to 2026
$3.1M
New directions in single cell genomics method developmentR01GM126553 · NIGMS · UNIVERSITY OF CHICAGO · PI Mengjie Chen · 2017 to 2026
$2.9M
NIAAA NIH HHS R01 AA029688NIDDK NIH HHS P30 DK020595NIGMS NIH HHS R01 GM126553
6 · The paper itself

Abstract

Transcriptome-wide association studies (TWASs) help identify disease-causing genes but often fail to pinpoint disease mechanisms at the cellular level because of the limited sample sizes and sparsity of cell-type-specific expression data. Here, we propose scPrediXcan, which integrates state-of-the-art deep learning approaches that predict epigenetic features from DNA sequences with the canonical TWAS framework. Our prediction approach, ctPred, predicts cell-type-specific expression with high accuracy and captures complex gene-regulatory grammar that linear models overlook. Applied to type 2 diabetes (T2D) and systemic lupus erythematosus (SLE), scPrediXcan outperformed the canonical TWAS framework by identifying more candidate causal genes, explaining more genome-wide association study (GWAS) loci and providing insights into the cellular specificity of TWAS hits. Overall, our results demonstrate that scPrediXcan represents a significant advance, promising to deepen our understanding of the cellular mechanisms underlying complex diseases.

Indexed as

Deep LearningGenome-Wide Association StudySingle-Cell AnalysisTranscriptomeDiabetes Mellitus, Type 2Epigenesis, GeneticGene Expression ProfilingHumansLupus Erythematosus, Systemicdeep learningEnformerGWASPrediXcansingle-cellsingle-cell RNA-seqsystemic lupus erythematosusTWAStype 2 diabetes

Identifiers

PMID40373737
PMCPMC12143334

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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.