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Related Concept Videos

Genome-wide Association Studies-GWAS01:11

Genome-wide Association Studies-GWAS

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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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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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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
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Types of Biopharmaceutical Studies: Controlled and Non-Controlled Approaches01:23

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Biopharmaceutical studies constitute a vital field aiming to enhance drug delivery methods and refine therapeutic approaches, drawing upon diverse interdisciplinary knowledge. In research methodologies, the choice between controlled and non-controlled studies significantly influences the study's reliability and accuracy.
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Imaging Studies for Cardiovascular System VI: Calcium -Scoring CT01:25

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Calcium-Scoring CT ScanA calcium-scoring CT scan, also known as coronary artery calcium (CAC) scan, detects calcium deposits in the coronary arteries. This test assesses the risk of coronary artery disease (CAD), which can lead to cardiovascular events such as angina, heart failure, and sudden cardiac arrest.A calcium-scoring CT scan is generally recommended for individuals at intermediate risk of CAD without symptoms. It includes:Men aged 40-75 and women aged 50-75: Especially those with a...
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Single Nucleotide Polymorphisms-SNPs01:05

Single Nucleotide Polymorphisms-SNPs

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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,...
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Correction: Predictive value of BMD for hip and other fractures: a meta-analysis to update FRAX.

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Related Experiment Video

Updated: Nov 29, 2025

Large-Scale Multi-Omics Genome-Wide Association Studies Mo-GWAS: Guidelines for Sample Preparation and Normalization
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Post-GWAS Polygenic Risk Score: Utility and Challenges.

Tuan V Nguyen1,2,3,4, John A Eisman1,2,3

  • 1Healthy Ageing Theme Garvan Institute of Medical Research Sydney Australia.

JBMR Plus
|November 19, 2020
PubMed
Summary
This summary is machine-generated.

Polygenic risk scores (PRS) combine multiple genetic variants to offer a better fracture risk assessment than single variants alone. Integrating PRS into models improves precision for osteoporosis risk prediction.

Keywords:
DISEASES AND DISORDERS OF/RELATED TO BONEFRACTURE RISK ASSESSMENTGENETIC RESEARCHHUMAN ASSOCIATION STUDIESOSTEOPOROSISPRACTICE/POLICY‐RELATED ISSUES

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Area of Science:

  • Genetics
  • Osteoporosis Research
  • Bone Mineral Density (BMD)

Background:

  • Over 300 genetic variants linked to BMD or fracture risk identified.
  • Individual genetic variants have limited predictive power due to small effect sizes.
  • Conventional clinical risk factors are insufficient for precise fracture risk assessment.

Purpose of the Study:

  • Review progress in osteoporosis genetics.
  • Discuss approaches for creating polygenic risk scores (PRS).
  • Evaluate the utility and limitations of PRS in fracture risk prediction.

Main Methods:

  • Genome-wide association studies (GWAS) to identify genetic variants.
  • Development and application of polygenic risk scores (PRS).
  • Integration of PRS into existing fracture prediction models.

Main Results:

  • PRS aggregates effects of multiple common variants.
  • PRS provides enhanced fracture risk indication beyond clinical factors.
  • PRS integration improves individual fracture risk assessment.

Conclusions:

  • PRS offers a valuable tool for precision risk assessment in osteoporosis.
  • Combining genetic data via PRS aids clinicians and patients in evaluating fracture risk.
  • Future research can refine PRS for more accurate osteoporosis management.