ReviewGenetic epidemiology2022
Genetic heterogeneity: Challenges, impacts, and methods through an associative lens.
Review in Genetic epidemiology, 2022. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 31 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
31 citing papers in PubMed, 1 synthesis or guideline pooled it.
- Identification of Endometriosis Pathophysiologic-Related Genes Based on Meta-Analysis and Bayesian Approach.International journal of molecular sciences · 2025Pooled it
- CRISPR-Enabled functional genomics in hPSCs-derived neural models for autism spectrum disorder.Metabolic brain disease · 2026Review
- Checking Genetic Homogeneity Between Two Samples Using Summary Statistics With Application to Mendelian Randomization.Statistics in medicine · 2026Article
- Dissecting Alzheimer's disease heterogeneity by cross-trait polygenic prediction.bioRxiv : the preprint server for biology · 2026Article
- Cross-population validation of European GWAS loci for metabolic syndrome in Chinese schizophrenia.BMC psychiatry · 2026Article
- The Evolution of Gene Sequencing Technologies: Unveiling Genetic Architecture of Nonsyndromic Orofacial Clefts.Genetics research · 2026Review
- Survival-LCS: Rule-Based Survival Analysis without Proportional Hazard Assumptions.ACM transactions on evolutionary learning and optimization · 2026Article
- GenTIGS: a database empowering research and clinical insights on rare genetic disorders with an Indian perspective.NAR genomics and bioinformatics · 2025Article
- Potential synthetic associations created by epistasis.Genome biology · 2025Article
- The Causal Pivot: A structural approach to genetic heterogeneity and variant discovery in complex diseases.American journal of human genetics · 2025Article
- Article
- Association between aggression and ADHD polygenic scores and school-age aggression: the mediating role of preschool externalizing behaviors and adverse experiences.European child & adolescent psychiatry · 2025Article
- SOD2 genetics regulating mitochondrial management of oxidative stress is tied to chemical sensitivity in Gulf war veterans.Scientific reports · 2025Article
- High resolution class I HLA-A, -B, and -C diversity in Eastern and Southern African populations.Scientific reports · 2025Article
- Sleep and schizophrenia polygenic scores in non-affective and affective psychotic disorders.Psychological medicine · 2025Article
- Review
- Precision cardiovascular medicine: shifting the innovation paradigm.Frontiers in science · 2025Article
- Global reform population health management as stewarded by Higher Expert Medical Science Safety (HEMSS).Frontiers in artificial intelligence · 2025Article
- Monitoring diversity in genome-wide association studies requires measuring and reporting on immigration-related factors.Frontiers in genetics · 2025Article
- Oocyte and dietary supplements: a mini review.Frontiers in cell and developmental biology · 2025Review
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
Abstract
Genetic heterogeneity describes the occurrence of the same or similar phenotypes through different genetic mechanisms in different individuals. Robustly characterizing and accounting for genetic heterogeneity is crucial to pursuing the goals of precision medicine, for discovering novel disease biomarkers, and for identifying targets for treatments. Failure to account for genetic heterogeneity may lead to missed associations and incorrect inferences. Thus, it is critical to review the impact of genetic heterogeneity on the design and analysis of population level genetic studies, aspects that are often overlooked in the literature. In this review, we first contextualize our approach to genetic heterogeneity by proposing a high-level categorization of heterogeneity into "feature," "outcome," and "associative" heterogeneity, drawing on perspectives from epidemiology and machine learning to illustrate distinctions between them. We highlight the unique nature of genetic heterogeneity as a heterogeneous pattern of association that warrants specific methodological considerations. We then focus on the challenges that preclude effective detection and characterization of genetic heterogeneity across a variety of epidemiological contexts. Finally, we discuss systems heterogeneity as an integrated approach to using genetic and other high-dimensional multi-omic data in complex disease research.
Indexed as
Identifiers
What Socratic 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 Socratic graph.