Evidence map›Paper›PMID 35421325›Full record

ArticleAmerican journal of human genetics2022

Leveraging LD eigenvalue regression to improve the estimation of SNP heritability and confounding inflation.

Shuang Song, Wei Jiang, Yiliang Zhang, Lin Hou, Hongyu Zhao

Abstract read
In one paragraph

Article in American journal of human genetics, 2022. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 18 papers.

0numbers the graph read from it
0cells of the map it votes in
18citing 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

18 citing papers in PubMed.

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  7. Participation bias in the estimation of heritability and genetic correlation.Proceedings of the National Academy of Sciences of the United States of America · 2025
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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

5 authors.

Shuang SongCenter for Statistical Science, Department of Industrial Engineering, Tsinghua University, Beijing 100084, China.
Wei JiangDepartment of Biostatistics, Yale School of Public Health, New Haven, CT 06510, USA.
Yiliang ZhangDepartment of Biostatistics, Yale School of Public Health, New Haven, CT 06510, USA.
Lin HouCenter for Statistical Science, Department of Industrial Engineering, Tsinghua University, Beijing 100084, China; MOE Key Laboratory of Bioinformatics, School of Life Sciences, Tsinghua University, Beijing 100084, China.
Hongyu ZhaoDepartment of Biostatistics, Yale School of Public Health, New Haven, CT 06510, USA. Electronic address: hongyu.zhao@yale.edu.

Funding

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
Medical Research Council MC_PC_17228Medical Research Council MC_QA137853NIGMS NIH HHS R01 GM134005
6 · The paper itself

Abstract

Heritability is a fundamental concept in genetic studies, measuring the genetic contribution to complex traits and bringing insights about disease mechanisms. The advance of high-throughput technologies has provided many resources for heritability estimation. Linkage disequilibrium (LD) score regression (LDSC) estimates both heritability and confounding biases, such as cryptic relatedness and population stratification, among single-nucleotide polymorphisms (SNPs) by using only summary statistics released from genome-wide association studies. However, only partial information in the LD matrix is utilized in LDSC, leading to loss in precision. In this study, we propose LD eigenvalue regression (LDER), an extension of LDSC, by making full use of the LD information. Compared to state-of-the-art heritability estimating methods, LDER provides more accurate estimates of SNP heritability and better distinguishes the inflation caused by polygenicity and confounding effects. We demonstrate the advantages of LDER both theoretically and with extensive simulations. We applied LDER to 814 complex traits from UK Biobank, and LDER identified 363 significantly heritable phenotypes, among which 97 were not identified by LDSC.

Indexed as

Genome-Wide Association StudyPolymorphism, Single NucleotideHumansLinkage DisequilibriumModels, GeneticMultifactorial InheritancePhenotypecomplex diseasesconfounding inflationheritabilityLD eigenvalue regression

Identifiers

PMID35421325
PMCPMC9118121

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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.