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

Nicholas J Timpson, Celia M T Greenwood, Nicole Soranzo, Daniel J Lawson, J Brent Richards

Research output: Contribution to journalReview article (Academic Journal)peer-review

243 Citations (Scopus)
1347 Downloads (Pure)


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.

Original languageEnglish
Pages (from-to)110-124
Number of pages15
JournalNature Reviews Genetics
Issue number2
Early online date11 Dec 2017
Publication statusPublished - 1 Feb 2018


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