Evidence map›Paper›PMID 42020412›Full record

ArticleNature communications2026

Leveraging cell-type specificity and similarity improves single-cell eQTL fine-mapping.

Chen Lin, Yingxin Lin, Wenxuan Li, Leqi Xu, Xiangyu Zhang, Hongyu Zhao

Abstract read
In one paragraph

Article in Nature communications, 2026. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 2 papers.

0numbers the graph read from it
0cells of the map it votes in
2citing 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

2 citing papers in PubMed.

  1. Article
  2. Article
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

6 authors.

Chen LinDepartment of Biostatistics, Yale University, New Haven, CT, USA.ORCID http://orcid.org/0000-0001-9821-2578
Yingxin LinDepartment of Biostatistics, Yale University, New Haven, CT, USA.ORCID http://orcid.org/0000-0002-4299-7326
Wenxuan LiDepartment of Biostatistics, Yale University, New Haven, CT, USA.ORCID http://orcid.org/0009-0006-7617-5159
Leqi XuDepartment of Biostatistics, Yale University, New Haven, CT, USA.ORCID http://orcid.org/0000-0001-6789-4959
Xiangyu ZhangDepartment of Biostatistics, Yale University, New Haven, CT, USA.
Hongyu ZhaoDepartment of Biostatistics, Yale University, New Haven, CT, USA. hongyu.zhao@yale.edu.ORCID http://orcid.org/0000-0003-1195-9607

Funding

Laboratory, Data Analysis, and Coordinating Center (LDACC) for the Developmental Human Genotype-Tissue Expression ProjectU24HG012108 · NHGRI · YALE UNIVERSITY · PI GERSTEIN, MARK BENDER, HUTTNER, ANITA JULIANE · 2021 to 2025
$8.7M
Computational and Statistical Methods to determine variant effect across cell types and development stagesU01HG013840 · NHGRI · YALE UNIVERSITY · PI GERSTEIN, MARK BENDER, ZHAO, HONGYU · 2024 to 2024
$1.9M
Novel statistical methods and tools to integrate multiple endophenotypes and functional annotation data to study the roles of rare variants in complex human diseases using sequencing dataR01GM134005 · NIGMS · YALE UNIVERSITY · PI WU, BAOLIN, ZHAO, HONGYU · 2020 to 2023
$1.6M
NHGRI NIH HHS U01 HG013840NHGRI NIH HHS U24 HG012108NIGMS NIH HHS R01 GM134005
6 · The paper itself

Abstract

Identifying cell-type-specific eQTL is important to understand the genetic regulation of gene expressions at the cell-type level and its relevance to complex traits. However, existing eQTL fine-mapping methods are limited in power and accuracy when cell types are analyzed separately. To improve eQTL mapping, we present CASE, a Bayesian framework to perform cell-type-specific and shared eQTL fine-mapping that simultaneously analyzes multiple cell types. CASE can effectively capture effect-sharing patterns across cell types while disentangling the confounding effects of linkage disequilibrium. We demonstrate that CASE outperforms the existing single-trait (SuSiE) and multi-trait (mvSuSiE) eQTL methods through comprehensive simulations. When applied to the OneK1K data, CASE identified more genetic regulations of gene expressions, better capturing cell type specificity and functionally enriched and disease-associated eQTL. The CASE framework for single-cell eQTL fine-mapping can be broadly applied to multi-tissue and multi-trait genetic studies.

Indexed as

Chromosome MappingQuantitative Trait LociSingle-Cell AnalysisBayes TheoremGene Expression RegulationGenome-Wide Association StudyHumansLinkage DisequilibriumOrgan SpecificityPolymorphism, Single Nucleotide

Identifiers

PMID42020412
PMCPMC13315960

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.