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Concept
Polygenic score
Summary
In genetics, a polygenic score (PGS), also called a polygenic index (PGI), polygenic risk score (PRS), genetic risk score, or genome-wide score, is a number that summarizes the estimated effect of many genetic variants on an individual's phenotype, typically calculated as a weighted sum of trait-associated alleles. It reflects an individual's estimated genetic predisposition for a given trait and can be used as a predictor for that trait. In other words, it gives an estimate of how likely an individual is to have a given trait only based on genetics, without taking environmental factors into account. Polygenic scores are widely used in animal breeding and plant breeding (usually termed genomic prediction or genomic selection) due to their efficacy in improving livestock breeding and crops. In humans, polygenic scores are typically generated from genome-wide association study (GWAS) data.
Recent progress in genetics has enabled the creation of polygenic predictors of complex human traits, including risk for many important complex diseases, which are typically affected by many genetic variants that each confer a small effect on overall risk. In a polygenic risk predictor the lifetime (or age-range) risk for the disease is a numerical function captured by the score which depends on the states of thousands of individual genetic variants (i.e., single nucleotide polymorphisms, or SNPs).
Polygenic scores are an area of intense scientific investigation: hundreds of papers are written each year on topics such as learning algorithms for genomic prediction, new predictor training, validation testing of predictors, clinical application of PRS. In 2018, the American Heart Association named polygenic risk scores as one of the major breakthroughs in research in heart disease and stroke.
DNA in living organisms is the recipe book for creating life. In humans, DNA is a string of four nucleotide bases (Thymine, Guanine, Cytosine, and Adenosine) found across 23 chromosomes. In total, each cell in the human body contains about 3 billion bases.
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Related concepts (2)
Genome-wide association study
In genomics, a genome-wide association study (GWA study, or GWAS), is an observational study of a genome-wide set of genetic variants in different individuals to see if any variant is associated with a trait. GWA studies typically focus on associations between single-nucleotide polymorphisms (SNPs) and traits like major human diseases, but can equally be applied to any other genetic variants and any other organisms. When applied to human data, GWA studies compare the DNA of participants having varying phenotypes for a particular trait or disease.
Heritability
Heritability is a statistic used in the fields of breeding and genetics that estimates the degree of variation in a phenotypic trait in a population that is due to genetic variation between individuals in that population. The concept of heritability can be expressed in the form of the following question: "What is the proportion of the variation in a given trait within a population that is not explained by the environment or random chance?" Other causes of measured variation in a trait are characterized as environmental factors, including observational error.