ArticleCurrent protocols in human genetics2019
Strategies for Pathway Analysis Using GWAS and WGS Data.
Article in Current protocols in human genetics, 2019. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 22 papers, 1 of them a synthesis that pooled 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.
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.
Who cites it
22 citing papers in PubMed, 1 synthesis or guideline pooled it.
- Pooled it
- Functionally informed annotation influences pathway-specific polygenic risk and disease inference in Alzheimer's disease.medRxiv : the preprint server for health sciences · 2026Article
- Associations of genetic variants with gene expression factors reveal biological pathways underlying complex traits.American journal of human genetics · 2026Article
- Autophagy-Mitophagy Pathway-Linked Genetic Variants Associate with Systemic Inflammation and Interact with Dietary Factors in Asian and European Cohorts.International journal of molecular sciences · 2026Article
- Concordance between male- and female-specific GWAS results helps define underlying genetic architecture of complex traits.Nature communications · 2025Article
- The Polygenic Nature of Multiple Sclerosis: Genetic Variants, Immunological Modulation, and Environmental Connections.Endocrine, metabolic & immune disorders drug targets · 2025Review
- Two subtle problems with overrepresentation analysis.Bioinformatics advances · 2024Article
- Hierarchical association of COPD to principal genetic components of biological systems.PloS one · 2023Article
- Genomic architecture of phenotypic extremes in a wild cervid.BMC genomics · 2022Article
- From GWAS to drug screening: repurposing antipsychotics for glioblastoma.Journal of translational medicine · 2022Article
- Enlightening the molecular mechanisms of type 2 diabetes with a novel pathway clustering and pathway subnetwork approach.Turkish journal of biology = Turk biyoloji dergisi · 2022Article
- Genetic dissection of complex traits using hierarchical biological knowledge.PLoS computational biology · 2021Article
- Article
- Attitudes among South African university staff and students towards disclosing secondary genetic findings.Journal of community genetics · 2021Article
- Functional genomics, genetic risk profiling and cell phenotypes in neurodegenerative disease.Neurobiology of disease · 2020Review
- Hogwash: three methods for genome-wide association studies in bacteria.Microbial genomics · 2020Article
- Explaining the Genetic Causality for Complex Phenotype via Deep Association Kernel Learning.Patterns (New York, N.Y.) · 2020Article
- Genome-Wide Association Study and Pathway Analysis for Heterophil/Lymphocyte (H/L) Ratio in Chicken.Genes · 2020Article
- Statistical driver genes as a means to uncover missing heritability for age-related macular degeneration.BMC medical genomics · 2020Article
- Turning genome-wide association study findings into opportunities for drug repositioning.Computational and structural biotechnology journal · 2020Review
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
6 authors.
Funding
Abstract
Single-allele study designs, commonly used in genome-wide association studies (GWAS) as well as the more recently developed whole genome sequencing (WGS) studies, are a standard approach for investigating the relationship of common variation within the human genome to a given phenotype of interest. However, single-allele association results published for many GWAS studies represent only the tip of the iceberg for the information that can be extracted from these datasets. The primary analysis strategy for GWAS entails association analysis in which only the single nucleotide polymorphisms (SNPs) with the strongest p-values are declared statistically significant due to issues arising from multiple testing and type I errors. Factors such as locus heterogeneity, epistasis, and multiple genes conferring small effects contribute to the complexity of the genetic models underlying phenotype expression. Thus, many biologically meaningful associations having lower effect sizes at individual genes are overlooked, making it difficult to separate true associations from a sea of false-positive associations. Organizing these individual SNPs into biologically meaningful groups to look at the overall effects of minor perturbations to genes and pathways is desirable. This pathway-based approach provides researchers with insight into the functional foundations of the phenotype being studied and allows testing of various genetic scenarios. © 2018 by John Wiley & Sons, Inc.
Indexed as
Identifiers
What OpenQuestion holds
Registered trials
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.