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Related Concept Videos

Genetic Screens02:46

Genetic Screens

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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...
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Genome-wide Association Studies-GWAS01:11

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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.
GWAS does not require the identification of the target gene involved in...
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Human Genetics01:28

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Human genetics provides a profound framework for understanding the interplay between genetic predispositions and human psychology. At the heart of this discipline lies the study of how genes influence physical traits, behaviors, and susceptibility to diseases. Each person carries a unique genetic code that subtly or significantly shapes their psychological and behavioral landscape.
The complex relationship between genetics and psychology is observable through common biological components such...
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Polygenic Traits01:18

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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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Heritability01:06

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Heritability is a statistical concept that measures the degree to which genetic differences among individuals contribute to trait variations within a population. It is a fundamental idea in genetics, often prone to misinterpretation. Heritability is expressed as a percentage, reflecting the proportion of variation in a specific trait across a population that can be linked to genetic differences. However, it's important to understand that heritability does not determine how "genetic"...
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Relative Risk01:12

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Relative risk (RR) is a statistical measure commonly used in epidemiology to compare the likelihood of a particular event occurring between two groups. This metric is important for evaluating the relationship between exposure to a specific risk factor and the probability of a particular outcome. It plays a crucial role in medical research, public health studies, and risk assessment. Relative risk quantifies how much more (or less) likely an event is to occur in an exposed group compared to an...
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An Allele-specific Gene Expression Assay to Test the Functional Basis of Genetic Associations
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Genetic Risk Scores.

Robert P Igo1, Tyler G Kinzy1, Jessica N Cooke Bailey1

  • 1Department of Population and Quantitative Health Sciences, Case Western Reserve University, Cleveland, Ohio.

Current Protocols in Human Genetics
|November 26, 2019
PubMed
Summary
This summary is machine-generated.

Genetic risk scores aggregate genetic marker effects to predict disease susceptibility. This approach enhances the clinical interpretation of genome-wide variation data for common complex diseases.

Keywords:
AUCcomplex diseasescomplex traitsdisease predictiongenetic risk scorepolygenic risk score

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Area of Science:

  • Genetics
  • Bioinformatics
  • Computational Biology

Background:

  • Genome-wide variation data are abundant but underutilized for clinical prediction.
  • Many common complex diseases have numerous genetic risk loci with small effects.
  • Current interpretation of genetic data for disease risk prediction is limited.

Purpose of the Study:

  • To describe methods and software for calculating genetic risk scores (GRS) and polygenic risk scores (PRS).
  • To focus on the application of GRS and PRS in studies of common complex diseases.
  • To review essential data requirements and limitations for constructing GRS.

Main Methods:

  • Aggregation of genetic marker effects into a single predictive measure.
  • Utilizing common methods and software packages for GRS and PRS calculation.
  • Reviewing data requirements (phenotypic and genetic) and application limitations.

Main Results:

  • Genetic risk scores provide an intuitive approach to convert genetic data into disease susceptibility measures.
  • Common methods and software packages are available for calculating GRS and PRS.
  • Considerations for data requirements and limitations are crucial for effective GRS construction.

Conclusions:

  • Genetic risk scores can improve the clinical interpretation and application of genome-wide variation data.
  • GRS and PRS are valuable tools for predicting disease susceptibility in common complex diseases.
  • Understanding data requirements and limitations is key to successful implementation of GRS.