ReviewNature reviews. Genetics2018
Genetic architecture: the shape of the genetic contribution to human traits and disease.
Review in Nature reviews. Genetics, 2018. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 211 papers, 6 of them syntheses that pooled it.
What it found
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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
211 citing papers in PubMed, 6 syntheses or guidelines pooled it.
- The contribution of common and rare genetic variants to variation in metabolic traits in 288,137 East Asians.Nature communications · 2022Pooled it
- A systematic review of gene-by-intervention studies of alcohol and other substance use.Development and psychopathology · 2021Pooled it
- The rs9340799 polymorphism of the estrogen receptor alpha (ESR1) gene and its association with breast cancer susceptibility.Scientific reports · 2021Pooled it
- Population genetic considerations for using biobanks as international resources in the pandemic era and beyond.BMC genomics · 2021Pooled it
- Pooled it
- Genome-wide analysis of dental caries and periodontitis combining clinical and self-reported data.Nature communications · 2019Pooled it
- Genetic Modifiers of ABCA1 Activity Interact with APOE Isoforms to Mediate Alzheimer's Disease Risk.Annals of neurology · 2026Article
- Brain-Wide Multi-Trait Genetic Integration Implicates Lysosomal and Metabolic Axes Linking Visual Disturbance and Alzheimer's Disease.Molecular neurobiology · 2026Article
- Genetic architectures of brain-related traits are shaped by strong selective constraints.Proceedings of the National Academy of Sciences of the United States of America · 2026Article
- Methods to detect selection history in a population under ongoing directional selection.Genetics · 2026Article
- Pervasive context-dependent effects in the genetic architecture of complex and quantitative traits revealed by a powerful multiparent mapping population in yeast.PLoS genetics · 2026Article
- Exposome Versus Genome in HS: How Do We Currently Explain Where Disease Arises from?Journal of clinical medicine · 2026Review
- Pathogenic variation distribution of ACMG 3.2 list genes in 11 ethnic groups in southwest China.BMC genomics · 2026Article
- Article
- A multidisciplinary paediatric endocrine genetic clinic: experience from a single tertiary centre.European journal of pediatrics · 2026Article
- Best practices for improving alignment and variant calling on human sex chromosomes.American journal of human genetics · 2026Article
- Genetic architectures of brain-related traits are shaped by strong selective constraints.bioRxiv : the preprint server for biology · 2026Article
- Clinical use of polygenic risk scores: current status, barriers and future directions.Nature reviews. Genetics · 2026Review
- Shared genetic architecture of psychoactive substance use and pan-cancer: insights from a large‑scale genome‑wide cross‑trait analysis.BMC medicine · 2026Article
- A pattern-learning algorithm associates copy number variations with brain structure and behavioural variables in an adolescent population cohort.Nature biomedical engineering · 2026Article
151 more citing papers are in PubMed but not listed here.
Corrections and comments
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Authors and funding
5 authors.
Funding
Abstract
Genetic architecture describes the characteristics of genetic variation that are responsible for heritable phenotypic variability. It depends on the number of genetic variants affecting a trait, their frequencies in the population, the magnitude of their effects and their interactions with each other and the environment. Defining the genetic architecture of a complex trait or disease is central to the scientific and clinical goals of human genetics, which are to understand disease aetiology and aid in disease screening, diagnosis, prognosis and therapy. Recent technological advances have enabled genome-wide association studies and emerging next-generation sequencing studies to begin to decipher the nature of the heritable contribution to traits and disease. Here, we describe the types of genetic architecture that have been observed, how architecture can be measured and why an improved understanding of genetic architecture is central to future advances in the field.
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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.