Genetic architecture: the shape of the genetic contribution to human traits and disease
Open accessAbstract
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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Genetic architecture can inform prospects for clinical utility, but for most psychiatric disorders application is probabilistic rather than deterministic.
“Genetic architecture can inform prospects for clinical utility: although many deterministic monogenetic conditions are predicted or diagnosed using genetic testing, application to most psychiatric disorders traverses far more murky, probabilistic terrain (Timpson et al., 2018).”
From Defining the genetic, genomic, cellular, and diagnostic architectures of psychiatric disorders (2019) · cites this paper as Timpson et al., 2018
Knowledge of genetic architecture can help optimize gene discovery, including study design, ascertainment, and choice of genotyping technology.
“Knowledge of genetic architecture can help optimize gene discovery (e.g., study design, ascertainment, and choice of genotyping technology) (Timpson et al., 2018; Visscher et al., 2012).”
From Defining the genetic, genomic, cellular, and diagnostic architectures of psychiatric disorders (2019) · cites this paper as Timpson et al., 2018
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Background
- Authors
- Timpson, N. J., Greenwood, C. M. T., Soranzo, N., Lawson, D. J., & Richards, J. B.
- Affiliations
- University of Bristol (GB)
- Jewish General Hospital (CA)
- University of Cambridge (GB)
- King's College London (GB)
- Corresponding author
- Timpson, Nicholas J.
- Richards, J. Brent
- Venue
- Nature Reviews Genetics
- Published
- 2017-12-11
- Volume
- 19
- Issue
- 2
- Pages
- 110-124
- ISSN
- 1471-0056 (ISSN-L)
- 1471-0064
- OpenAlex
- W2774504697
- Cited by
- 434
- References
- 154
- Citations by year
- 2026: 20 · 2025: 35 · 2024: 39 · 2023: 27 · 2022: 69 · 2021: 83 · 2020: 58 · 2019: 57 · 2018: 45 · 2016: 1
- FWCI
- 5.66
- Type
- journal article
- Language
- en
- Open access
- Licence
- other-oa
- www.springer.com/tdm (tdm)
- Locations
- Nature Reviews Genetics (publishedVersion)
- PubMed (publishedVersion)
- Bristol Research (University of Bristol) (submittedVersion, other-oa)
- Funders
- Wellcome Trust (202802/Z/16/Z)
- Medical Research Council (MC_PC_15018)
- Topics
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Genetic Associations and Epidemiology
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Genetic and phenotypic traits in livestock
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Genetic Mapping and Diversity in Plants and Animals
- Keywords
- genetic architecture, heritable phenotypic variation, genetic variants, complex traits, etiology, genome-wide association study, next-generation sequencing, genetic interactions
- MeSH terms
- Humans, Quantitative Trait, Heritable, Multifactorial Inheritance, Polymorphism, Single Nucleotide, Genetic Diseases, Inborn, Genome-Wide Association Study
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