ReviewNature reviews. Genetics2016
The statistical properties of gene-set analysis.
Review in Nature reviews. Genetics, 2016. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 188 papers, 16 of them syntheses 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
188 citing papers in PubMed, 16 syntheses or guidelines pooled it.
- Consensus meta-analysis of genome-wide association studies for Alzheimer's disease and related dementias.Nature genetics · 2026Pooled it
- Cross-ancestry analysis of gestational diabetes mellitus identifies novel loci, drug targets and biological pathways.Frontiers in endocrinology · 2026Pooled it
- Pooled it
- Loci on chromosome 20 interact with rs16969968 to influence cigarettes per day in European ancestry individuals.Drug and alcohol dependence · 2024Pooled it
- Genome-Wide Gene-Set Analysis Identifies Molecular Mechanisms Associated with ALS.International journal of molecular sciences · 2023Pooled it
- Gene Set Enrichment Analsyes Identify Pathways Involved in Genetic Risk for Diabetic Retinopathy.American journal of ophthalmology · 2022Pooled it
- Genome-wide association identifies the first risk loci for psychosis in Alzheimer disease.Molecular psychiatry · 2021Pooled it
- Pairwise common variant meta-analyses of schizophrenia with other psychiatric disorders reveals shared and distinct gene and gene-set associations.Translational psychiatry · 2020Pooled it
- Meta-analysis of 542,934 subjects of European ancestry identifies new genes and mechanisms predisposing to refractive error and myopia.Nature genetics · 2020Pooled it
- Review of Genetic Variation as a Predictive Biomarker for Chronic Graft-Versus-Host-Disease After Allogeneic Stem Cell Transplantation.Frontiers in immunology · 2020Pooled it
- Genome-wide analysis of insomnia in 1,331,010 individuals identifies new risk loci and functional pathways.Nature genetics · 2019Pooled it
- Biological annotation of genetic loci associated with intelligence in a meta-analysis of 87,740 individuals.Molecular psychiatry · 2019Pooled it
- Study of 300,486 individuals identifies 148 independent genetic loci influencing general cognitive function.Nature communications · 2018Pooled it
- Genome-wide association analyses identify 44 risk variants and refine the genetic architecture of major depression.Nature genetics · 2018Pooled it
- Common schizophrenia alleles are enriched in mutation-intolerant genes and in regions under strong background selection.Nature genetics · 2018Pooled it
- Cross-ethnic meta-analysis identifies association of the GPX3-TNIP1 locus with amyotrophic lateral sclerosis.Nature communications · 2017Pooled it
- A genome-wide association study of cognitive impairment in a Chinese cohort of 1,040 individuals.Human genetics · 2026Article
- Integrative TWAS and multi-omics analyses prioritize HSPE1 as a candidate risk gene for bipolar disorder with immune cell-specific regulatory evidence.European archives of psychiatry and clinical neuroscience · 2026Article
- Brain-Wide Multi-Trait Genetic Integration Implicates Lysosomal and Metabolic Axes Linking Visual Disturbance and Alzheimer's Disease.Molecular neurobiology · 2026Article
- Integrative Multi-omics Analysis for Prioritization of Candidate Genes in Polycystic Ovary Syndrome.FASEB journal : official publication of the Federation of American Societies for Experimental Biology · 2026Article
128 more citing papers are in PubMed but not listed here.
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
4 authors.
Funding
No grant is acknowledged in the PubMed record.
Abstract
The rapid increase in loci discovered in genome-wide association studies has created a need to understand the biological implications of these results. Gene-set analysis provides a means of gaining such understanding, but the statistical properties of gene-set analysis are not well understood, which compromises our ability to interpret its results. In this Analysis article, we provide an extensive statistical evaluation of the core structure that is inherent to all gene- set analyses and we examine current implementations in available tools. We show which factors affect valid and successful detection of gene sets and which provide a solid foundation for performing and interpreting gene-set analysis.
Indexed as
Identifiers
27070863What 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.