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Polygenic Traits

Polygenic Traits

When more than one gene is responsible for a given phenotype, the trait is considered polygenic. Human height is a polygenic trait. Studies have uncovered hundreds of loci that influence height, and there are believed to be many more. Due to the high number of genes involved, as well as environmental and nutritional factors, height varies significantly within a given population. The distribution of height forms a bell-shaped curve, with relatively few individuals in the population at the...

Polygenic Traits

Polygenic Traits

When more than one gene is responsible for a given phenotype, the trait is considered polygenic. Human height is a polygenic trait. Studies have uncovered hundreds of loci that influence height, and there are believed to be many more. Due to the high number of genes involved, as well as environmental and nutritional factors, height varies significantly within a given population. The distribution of height forms a bell-shaped curve, with relatively few individuals in the population at the...

Genome-wide Association Studies-GWAS

Genome-wide Association Studies-GWAS

Genome-wide association studies or GWAS are used to identify whether common SNPs are associated with certain diseases. Suppose specific SNPs are more frequently observed in individuals with a particular disease than those without the disease. In that case, those SNPs are said to be associated with the disease. Chi-square analysis is performed to check the probability of the allele likely to be associated with the disease.
GWAS does not require the identification of the target gene involved in...

Genetic Screens

Genetic Screens

Genetic screens are tools used to identify genes and mutations responsible for phenotypes of interest. Genetic screens help identify individuals or a group of people at risk of developing genetic diseases and help them with early intervention, targeted therapy, and reproductive options.
Forward genetic screens
Forward or “classical” genetic screens involve creating random mutations in an organism’s DNA using radiation, mutagens, or insertion of additional bases, which result in visible changes...

Single Nucleotide Polymorphisms-SNPs

Single Nucleotide Polymorphisms-SNPs

A single nucleotide polymorphism or SNP is a single nucleotide variation at a specific genomic position in a large population. It is the most prevalent type of sequence variation found in the human genome. Point mutations that occur in more than 1% of the population qualify as SNPs. These are present once every 1000 nucleotides on an average in the human genome. Replacement of a purine with another purine (A/G) or a pyrimidine with another pyrimidine (C/T) is known as a transition. In contrast,...

Genomics

Genomics

Genomics is the science of genomes: it is the study of all the genetic material of an organism. In humans, the genome consists of information carried in 23 pairs of chromosomes in the nucleus, as well as mitochondrial DNA. In genomics, both coding and non-coding DNA is sequenced and analyzed. Genomics allows a better understanding of all living things, their evolution, and their diversity. It has a myriad of uses: for example, to build phylogenetic trees, to improve productivity and...

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Related Experiment Video

Updated: Jun 23, 2026

A Pathway Association Study Tool for GWAS Analyses of Metabolic Pathway Information

A Pathway Association Study Tool for GWAS Analyses of Metabolic Pathway Information

Published on: July 1, 2020

PGS Browser: a public platform for personalized polygenic score analysis and interpretation.

Nikita Kolosov^1,2,3, Mary P Reeve^3,4, Pietro Della Briotta Parolo³

¹The Steve and Cindy Rasmussen Institute for Genomic Medicine, Nationwide Children's Hospital, Columbus, OH, USA.

Nature Communications

|June 20, 2026

Summary

Polygenic scores (PGSs) can identify individuals at high risk for complex diseases. This study evaluated 3168 PGS models in FinnGen participants, creating resources for score interpretation and clinical application.

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Area of Science:

Genetics
Bioinformatics
Precision Medicine

Background:

Polygenic scores (PGSs) assess genetic susceptibility to complex diseases.
Clinical translation of PGSs needs reference data, benchmarking, and interpretation tools.

Purpose of the Study:

To systematically evaluate 3168 PGS models using FinnGen data.
To establish standardized performance metrics and ancestry-adjusted reference distributions for PGSs.
To develop accessible tools for interpreting individual PGSs and their clinical utility.

Main Methods:

Evaluation of 3168 PGS models from the PGS Catalog in 473,681 FinnGen participants.
Standardized performance scaling for cross-model and cross-trait comparisons.
Phenome-wide association studies (PheWAS) for each PGS and creation of ancestry-adjusted reference distributions.

Main Results:

Established a common performance scale for 3168 PGS models.
Generated ancestry-adjusted reference distributions for biobank-scale interpretation.
Identified 439,070 significant phenotypic associations, demonstrating improved prediction with integrated scores.
Released 11 interactive time-to-event models and the PGS Browser (pgs.nchigm.org).

Conclusions:

The study provides a comprehensive evaluation and resource for PGSs.
Accessible tools and population-aware interpretation frameworks are crucial for clinical translation.
The developed resources lay the groundwork for the clinical application of polygenic scores.