ArticleAmerican journal of human genetics2015
A Powerful Pathway-Based Adaptive Test for Genetic Association with Common or Rare Variants.
Article in American journal of human genetics, 2015. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 37 papers, 2 of them syntheses that pooled it.
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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.
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Who cites it
37 citing papers in PubMed, 2 syntheses or guidelines pooled it.
- A Bayesian hierarchically structured prior for gene-based association testing with multiple traits in genome-wide association studies.Genetic epidemiology · 2022Pooled it
- A Powerful Procedure for Pathway-Based Meta-analysis Using Summary Statistics Identifies 43 Pathways Associated with Type II Diabetes in European Populations.PLoS genetics · 2016Pooled it
- NERINE reveals rare variant associations in gene networks across phenotypes and implicates an SNCA-PRL-LRRK2 subnetwork in Parkinson's disease.Cell genomics · 2026Article
- Parametric hypothesis testing for pathway based hierarchical structural component models.Genes & genomics · 2026Article
- A comprehensive framework for trans-ancestry pathway analysis using GWAS summary data from diverse populations.PLoS genetics · 2024Article
- Genetic variants associated with ALT elevation from therapeutic acetaminophen.Clinical toxicology (Philadelphia, Pa.) · 2022Article
- Adaptive and powerful microbiome multivariate association analysis via feature selection.NAR genomics and bioinformatics · 2022Article
- Speeding up Monte Carlo simulations for the adaptive sum of powered score test with importance sampling.Biometrics · 2022Article
- A Bayesian hierarchically structured prior for rare-variant association testing.Genetic epidemiology · 2021Article
- A powerful subset-based method identifies gene set associations and improves interpretation in UK Biobank.American journal of human genetics · 2021Article
- Implicating causal brain imaging endophenotypes in Alzheimer's disease using multivariable IWAS and GWAS summary data.NeuroImage · 2020Article
- A principal component approach to improve association testing with polygenic risk scores.Genetic epidemiology · 2020Article
- Explaining the Genetic Causality for Complex Phenotype via Deep Association Kernel Learning.Patterns (New York, N.Y.) · 2020Article
- Review
- A Bayesian hierarchical variable selection prior for pathway-based GWAS using summary statistics.Statistics in medicine · 2020Article
- Two-phase SSU and SKAT in genetic association studies.Journal of genetics · 2020Article
- A Regularization-Based Adaptive Test for High-Dimensional Generalized Linear Models.Journal of machine learning research : JMLR · 2020Article
- An adaptive test for meta-analysis of rare variant association studies.Genetic epidemiology · 2020Article
- FunSPU: A versatile and adaptive multiple functional annotation-based association test of whole-genome sequencing data.PLoS genetics · 2019Article
- A review of kernel methods for genetic association studies.Genetic epidemiology · 2019Review
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Authors and funding
3 authors.
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Abstract
In spite of the success of genome-wide association studies (GWASs), only a small proportion of heritability for each complex trait has been explained by identified genetic variants, mainly SNPs. Likely reasons include genetic heterogeneity (i.e., multiple causal genetic variants) and small effect sizes of causal variants, for which pathway analysis has been proposed as a promising alternative to the standard single-SNP-based analysis. A pathway contains a set of functionally related genes, each of which includes multiple SNPs. Here we propose a pathway-based test that is adaptive at both the gene and SNP levels, thus maintaining high power across a wide range of situations with varying numbers of the genes and SNPs associated with a trait. The proposed method is applicable to both common variants and rare variants and can incorporate biological knowledge on SNPs and genes to boost statistical power. We use extensively simulated data and a WTCCC GWAS dataset to compare our proposal with several existing pathway-based and SNP-set-based tests, demonstrating its promising performance and its potential use in practice.
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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.