Cookies on this website

We use cookies to ensure that we give you the best experience on our website. If you click 'Accept all cookies' we'll assume that you are happy to receive all cookies and you won't see this message again. If you click 'Reject all non-essential cookies' only necessary cookies providing core functionality such as security, network management, and accessibility will be enabled. Click 'Find out more' for information on how to change your cookie settings.

The sequencing of the human genome has allowed the study of the genetic architecture of common diseases: the number of genomic variants that contribute to risk of disease and their joint frequency and effect size distribution. Common diseases are polygenic, with many loci contributing to phenotype, and the cumulative burden of risk alleles determines individual risk in conjunction with environmental factors. Most risk loci occur in noncoding regions of the genome regulating cell- and context-specific gene expression. Although the effect sizes of most risk alleles are small, their cumulative effects in individuals, quantified as a polygenic (risk) score, can identify people at increased risk of disease, thereby facilitating prevention or early intervention.

Original publication

DOI

10.1126/science.abi8206

Type

Journal article

Journal

Science (New York, N.Y.)

Publication Date

09/2021

Volume

373

Pages

1468 - 1473

Addresses

Institute for Molecular Bioscience, University of Queensland, Brisbane, Queensland 4072, Australia.

Keywords

Humans, Disease, Genetic Predisposition to Disease, Rare Diseases, Multifactorial Inheritance, Polymorphism, Single Nucleotide, Models, Genetic, Genetic Variation, Genome-Wide Association Study, Selection, Genetic, Whole Genome Sequencing