Genetic architecture: the shape of the genetic contribution to human traits and disease

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 othe...

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Bibliographic Details
Published in:Nature reviews. Genetics Vol. 19; no. 2; p. 110
Main Authors: Timpson, Nicholas J, Greenwood, Celia M T, Soranzo, Nicole, Lawson, Daniel J, Richards, J Brent
Format: Journal Article
Language:English
Published: England Nature Publishing Group 01.02.2018
Subjects:
Genetic Diseases, Inborn - diagnosis
Genetic Diseases, Inborn - genetics
Genetic diversity
Genetic variability
Genome-wide association studies
Genome-Wide Association Study
Genomes
Genotype & phenotype
Humans
Multifactorial Inheritance
Polymorphism, Single Nucleotide
Quantitative Trait, Heritable
ISSN:1471-0056, 1471-0064, 1471-0064
Online Access:Get full text
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Summary: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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ISSN:1471-0056
1471-0064
1471-0064
DOI:10.1038/nrg.2017.101