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Related Concept Videos

Polygenic Traits01:18

Polygenic Traits

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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...
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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.
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Behavior genetics explores how genetic inheritance influences human behavior. It focuses on how genes, passed from parents to offspring, contribute to the development of behavioral traits and tendencies. This branch of genetics seeks to understand the complex interplay between inherited genetic factors and environmental influences in shaping our behaviors.
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Sequencing of the human genome has opened up several best-kept secrets of the genome. Scientists have identified thousands of genome variations that exist within a population. These variations can be a single nucleotide or a larger chromosomal variation.
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The Polygenic Score Catalog: new functionality and tools to enable FAIR research.

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Summary

The PGS Catalog now offers expanded data and features for polygenic scores (PGS). A new calculator tool enables reproducible PGS calculation, promoting equitable use in disease prediction and treatment response studies.

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Area of Science:

  • Human Genetics
  • Bioinformatics
  • Genomic Medicine

Background:

  • Polygenic scores (PGS) are crucial for human genetic research, aiding in disease risk stratification and predicting treatment responses.
  • The PGS Catalog is a leading repository for PGS, emphasizing FAIR data principles.
  • Previous limitations included data content and ancestral diversity, hindering broad application.

Purpose of the Study:

  • To present recent enhancements to the PGS Catalog, a FAIR repository for polygenic scores.
  • To introduce the PGS Catalog Calculator (pgsc_calc) for reproducible and equitable PGS calculation.
  • To facilitate the next generation of PGS research and clinical integration.

Main Methods:

  • Expanded data content and ancestral diversity within the PGS Catalog.
  • Developed PGS Catalog Calculator (pgsc_calc): an open-source, scalable pipeline.
  • Implemented genetic ancestry estimation and score normalization for equitable PGS application.

Main Results:

  • The PGS Catalog now includes expanded data and greater ancestral diversity.
  • The pgsc_calc pipeline enables reproducible calculation of PGS.
  • Users can quantify genetic predisposition for numerous common diseases and traits.

Conclusions:

  • Updates to the PGS Catalog and the introduction of pgsc_calc lower barriers for PGS research.
  • These advancements support the clinical integration of polygenic scores for disease prevention and treatment.
  • Equitable access to PGS calculation tools is crucial for advancing genomic medicine.