ReviewNature2009
Finding the missing heritability of complex diseases.
Review in Nature, 2009. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 4,391 papers, 5 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
4,391 citing papers in PubMed, 5 syntheses or guidelines pooled it.
- Gene-based association analysis of depression risk among European ancestry Parkinson's disease patients.Human genetics · 2026Pooled it
- Long-Read sequencing in psychiatric omics: a systematic review of current evidence.Molecular psychiatry · 2026Pooled it
- Consideration of inherited cancer risk on a continuum: An international and multidisciplinary perspective: A points to consider statement of the American College of Medical Genetics and Genomics (ACMG).Genetics in medicine : official journal of the American College of Medical Genetics · 2026Guideline
- Multiomics Data Synthesis of FAM83H in Amelogenesis Imperfecta.International dental journal · 2026Pooled it
- Association of Mutations in theInternational journal of molecular sciences · 2026Pooled it
- From signals to systems: the epigenetic-microbiome-mitochondrial axis in IBD pathogenesis.Gut microbes · 2026Review
- From candidate genes to whole-genome approaches: current insights into the genetic architecture of ovine milk production and quality traits.Veterinary and animal science · 2026Review
- Genetics of type 2 diabetes: Beyond single nucleotide variant studies.Molecular metabolism · 2026Review
- Association ofInternational journal of molecular sciences · 2026Article
- Evolution expresses the second law of thermodynamics in action.Journal of the Royal Society, Interface · 2026Article
- Testing for Genetic Interactions in Complex Disease With Distance Correlation.Biometrical journal. Biometrische Zeitschrift · 2026Article
- Perceptions of Polygenic Scores for Medical and Social Traits Among Biobank Participants and the Public.Biopreservation and biobanking · 2026Article
- Genetic landscape of an in vivo protein interactome.Nature genetics · 2026Article
- Design and model choices shape inference of age-varying genetic effects on complex traits.Nature aging · 2026Article
- Disentangling Sex Differences in Sulfonylurea Drug Response With Genome-Wide Association Studies in Individuals With Type 2 Diabetes.Clinical pharmacology and therapeutics · 2026Article
- A founder population reveals genetic variation with major effect on serious mental illness.medRxiv : the preprint server for health sciences · 2026Article
- Genetic and epigenetic landscape of non-familial sudden cardiac death.Molecular biology reports · 2026Review
- Artificial intelligence in biomarker discovery for diseases: diagnostic and therapeutic prospects.Signal transduction and targeted therapy · 2026Review
- Article
- Transition from Conventional to Genomic Selection (ssGBLUP) led to improve in accuracy gains and selection decisions in Sahiwal Cattle.Scientific reports · 2026Article
4,331 more citing papers are in PubMed but not listed here.
Corrections and comments
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Authors and funding
27 authors.
Funding
Abstract
Genome-wide association studies have identified hundreds of genetic variants associated with complex human diseases and traits, and have provided valuable insights into their genetic architecture. Most variants identified so far confer relatively small increments in risk, and explain only a small proportion of familial clustering, leading many to question how the remaining, 'missing' heritability can be explained. Here we examine potential sources of missing heritability and propose research strategies, including and extending beyond current genome-wide association approaches, to illuminate the genetics of complex diseases and enhance its potential to enable effective disease prevention or treatment.
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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.