From GWAS to gene: transcriptome-wide association studies and other methods to functionally understand GWAS discoveries

B Li, MD Ritchie - Frontiers in genetics, 2021 - frontiersin.org
Since their inception, genome-wide association studies (GWAS) have identified more than a
hundred thousand single nucleotide polymorphism (SNP) loci that are associated with …

The goldmine of GWAS summary statistics: a systematic review of methods and tools

PI Kontou, PG Bagos - BioData Mining, 2024 - Springer
Genome-wide association studies (GWAS) have revolutionized our understanding of the
genetic architecture of complex traits and diseases. GWAS summary statistics have become …

[HTML][HTML] Cross-validation of SARS-CoV-2 responses in kidney organoids and clinical populations

L Helms, S Marchiano, IB Stanaway, TY Hsiang… - JCI insight, 2021 - ncbi.nlm.nih.gov
Kidneys are critical target organs of COVID-19, but susceptibility and responses to infection
remain poorly understood. Here, we combine SARS-CoV-2 variants with genome-edited …

Aggregating multiple expression prediction models improves the power of transcriptome-wide association studies

P Zeng, J Dai, S **, X Zhou - Human Molecular Genetics, 2021 - academic.oup.com
Transcriptome-wide association study (TWAS) is an important integrative method for
identifying genes that are causally associated with phenotypes. A key step of TWAS involves …

ADELLE: A global testing method for Trans-eQTL map**

T Akinbiyi, MS McPeek, M Abney - PLoS genetics, 2025 - journals.plos.org
Understanding the genetic regulatory mechanisms of gene expression is an ongoing
challenge. Genetic variants that are associated with expression levels are readily identified …

The Cauchy combination test under arbitrary dependence structures

M Long, Z Li, W Zhang, Q Li - The American Statistician, 2023 - Taylor & Francis
Combining individual p-values to perform an overall test is often encountered in statistical
applications. The Cauchy combination test (CCT)(Journal of the American Statistical …

Detecting associated genes for complex traits shared across East Asian and European populations under the framework of composite null hypothesis testing

J Qiao, Z Shao, Y Wu, P Zeng, T Wang - Journal of Translational Medicine, 2022 - Springer
Background Detecting trans-ethnic common associated genetic loci can offer important
insights into shared genetic components underlying complex diseases/traits across diverse …

Detection of genetic overlap between rheumatoid arthritis and systemic lupus erythematosus using GWAS summary statistics

H Lu, J Zhang, Z Jiang, M Zhang, T Wang… - Frontiers in …, 2021 - frontiersin.org
Background Clinical and epidemiological studies have suggested systemic lupus
erythematosus (SLE) and rheumatoid arthritis (RA) are comorbidities and common genetic …

Ranking antibody binding epitopes and proteins across samples from whole proteome tiled linear peptides

SJ McIlwain, A Hoefges, AK Erbe, PM Sondel… - …, 2024 - academic.oup.com
Introduction Ultradense peptide binding arrays that can probe millions of linear peptides
comprising the entire proteomes of human or mouse, or hundreds of thousands of microbes …

Multiple-tissue integrative transcriptome-wide association studies discovered new genes associated with amyotrophic lateral sclerosis

L **ao, Z Yuan, S **, T Wang, S Huang… - Frontiers in genetics, 2020 - frontiersin.org
Genome-wide association studies (GWAS) have identified multiple causal genes associated
with amyotrophic lateral sclerosis (ALS); however, the genetic architecture of ALS remains …