Evidence map›Paper›PMID 29220677›Full record

ArticleAmerican journal of human genetics2017

A Powerful Approach to Estimating Annotation-Stratified Genetic Covariance via GWAS Summary Statistics.

Qiongshi Lu, Boyang Li, Derek Ou, Margret Erlendsdottir, Ryan L Powles, Tony Jiang, Yiming Hu, David Chang, Chentian Jin, Wei Dai and 5 more

Open access · bronzeAbstract read
In one paragraph

Article in American journal of human genetics, 2017. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 151 papers, 10 of them syntheses that pooled it.

0numbers the graph read from it
0cells of the map it votes in
151citing papers in PubMed, 10 pooled it
10.1field-weighted citation impact, top 2% of its field
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

151 citing papers in PubMed, 10 syntheses or guidelines pooled it, 233 citations in OpenAlex.

  1. Pooled it
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  4. A genome-wide association meta-analysis of all-cause and vascular dementia.Alzheimer's & dementia : the journal of the Alzheimer's Association · 2024
    Pooled it
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  20. Genetic architecture of the limbic white matter microstructure in aging and Alzheimer's Disease.Alzheimer's & dementia : the journal of the Alzheimer's Association · 2026
    Article

91 more citing papers are in PubMed but not listed here.

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

15 authors at 4 institutions in 2 countries.

Qiongshi LuDepartment of Biostatistics, Yale School of Public Health, New Haven, CT 06510, USA.
Boyang LiDepartment of Biostatistics, Yale School of Public Health, New Haven, CT 06510, USA.
Derek OuYale School of Medicine, New Haven, CT 06510, USA.
Margret ErlendsdottirYale School of Medicine, New Haven, CT 06510, USA.
Ryan L PowlesProgram of Computational Biology and Bioinformatics, Yale University, New Haven, CT 06510, USA.
Tony JiangYale College, New Haven, CT 06520, USA.
Yiming HuDepartment of Biostatistics, Yale School of Public Health, New Haven, CT 06510, USA.
David ChangProgram of Computational Biology and Bioinformatics, Yale University, New Haven, CT 06510, USA.
Chentian JinYale College, New Haven, CT 06520, USA.
Wei DaiDepartment of Biostatistics, Yale School of Public Health, New Haven, CT 06510, USA.
Qidu HeDepartment of Computer Science and Engineering, Shanghai Jiao Tong University, Shanghai 200240, China.
Zefeng LiuDepartment of Computer Science and Engineering, Shanghai Jiao Tong University, Shanghai 200240, China.
Shubhabrata MukherjeeDivision of General Internal Medicine, Department of Medicine, University of Washington, Seattle, WA 98195, USA.
Paul K CraneDivision of General Internal Medicine, Department of Medicine, University of Washington, Seattle, WA 98195, USA.
Hongyu ZhaoDepartment of Biostatistics, Yale School of Public Health, New Haven, CT 06510, USA; Program of Computational Biology and Bioinformatics, Yale University, New Haven, CT 06510, USA; VA Cooperative Studies Program Coordinating Center, West Haven, CT 06516, USA. Electronic address: hongyu.zhao@yale.edu.
Yale University · USShanghai Jiao Tong University · CNUniversity of Washington · USProgram Support Center · US

Funding

Yale Clinical and Translational Science Award (U Component)UL1TR001863 · NCATS · YALE UNIVERSITY · PI John H. Krystal, LUCILA OHNO-MACHADO · 2016 to 2026
$102.9M
MEDICAL SCIENTIST TRAINING PROGRAMT32GM007205 · NIGMS · YALE UNIVERSITY · PI KAZMIERCZAK, BARBARA I · 1985 to 2019
$42.9M
STATISTICAL METHODS TO MAP GENES FOR COMPLEX TRAITSR01GM059507 · NIGMS · YALE UNIVERSITY · PI ZHAO, HONGYU · 1999 to 2013
$3.6M
NCATS NIH HHS UL1 TR001863NIGMS NIH HHS R01 GM059507NIGMS NIH HHS T32 GM007205
6 · The paper itself

Abstract

Despite the success of large-scale genome-wide association studies (GWASs) on complex traits, our understanding of their genetic architecture is far from complete. Jointly modeling multiple traits' genetic profiles has provided insights into the shared genetic basis of many complex traits. However, large-scale inference sets a high bar for both statistical power and biological interpretability. Here we introduce a principled framework to estimate annotation-stratified genetic covariance between traits using GWAS summary statistics. Through theoretical and numerical analyses, we demonstrate that our method provides accurate covariance estimates, thereby enabling researchers to dissect both the shared and distinct genetic architecture across traits to better understand their etiologies. Among 50 complex traits with publicly accessible GWAS summary statistics (N

Indexed as

Analysis of VarianceGenetic Predisposition to DiseaseAlzheimer DiseaseAmyotrophic Lateral SclerosisGenome-Wide Association StudyHumansLinkage DisequilibriumMolecular Sequence AnnotationPolymorphism, Single NucleotideQuantitative Trait LociAlzheimer’s diseaseamyotrophic lateral sclerosisfunctional annotationgenetic covariancegenome-wide association studysummary statistics

Identifiers

PMID29220677
PMCPMC5812911
OpenAlexW2950948210

What OpenQuestion holds

Textmetadata
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.