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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.
GWAS does not require the identification of the target gene involved in...
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Pharmacogenomics: Identification of New Drug Targets01:29

Pharmacogenomics: Identification of New Drug Targets

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Advances in genomics have profoundly influenced drug discovery by increasing both the speed and accuracy of pharmaceutical development. Pharmacogenomics, which examines how genetic variation influences drug response, facilitates the identification of novel therapeutic targets and enables patient stratification for personalized treatment. These strategies contribute to improved drug efficacy, minimized adverse effects, and more efficient clinical trial design.Mapping genetic differences...
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Principles of Pharmacogenetics: Types of Genetic Variants01:27

Principles of Pharmacogenetics: Types of Genetic Variants

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The human genome is over 99.9% identical between individuals, yet genetic differences exist at millions of bases. The human genome contains approximately 3 million variant positions per individual, many of which are heterozygous, contributing to genetic diversity and individual traits. Genetic variations include single-nucleotide polymorphisms (SNPs), insertions, deletions, and copy number variations (CNVs).SNPs, the most common variation, involve single-base changes in DNA. These can be...
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Human Genetics01:28

Human Genetics

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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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Behavioral Genetics and Its Designs01:23

Behavioral Genetics and Its Designs

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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.
The primary methodologies used in behavior genetics include family studies, twin studies, and adoption studies, each providing unique...
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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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Candidate Gene Testing in Clinical Cohort Studies with Multiplexed Genotyping and Mass Spectrometry
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[Advances on gene-based association analysis].

Xu-Hong Luo1, Zhi-Fang Liu2, Chang-Zheng Dong2

  • 1Department of Preventive Medicine, School of Medicine, Ningbo University, Ningbo 315211, China. luoxuhong@yahoo.cn

Yi Chuan = Hereditas
|January 10, 2014
PubMed
Summary
This summary is machine-generated.

Genome-wide association studies (GWAS) provide valuable genetic data. Gene-based association analysis enhances this by integrating single nucleotide polymorphisms (SNPs) within genes to explore disease mechanisms.

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Area of Science:

  • Genetics
  • Bioinformatics
  • Systems Biology

Context:

  • Genome-wide association studies (GWAS) are established for identifying disease susceptibility genes.
  • However, the full potential of GWAS data for understanding disease mechanisms remains largely untapped.
  • Recent efforts leverage biological networks and pathways to interpret GWAS findings.

Purpose:

  • To review the progress, principles, and applications of gene-based association analysis.
  • To highlight the integration of genetic effects from single nucleotide polymorphisms (SNPs) within genes.
  • To address the limitations of traditional GWAS by considering gene-level genetic information.

Summary:

  • Gene-based association analysis integrates genetic effects of single nucleotide polymorphisms (SNPs) within genes into genetic scores.
  • This approach considers factors like SNP effects, gene size, and linkage disequilibrium structure.
  • It offers a more comprehensive method for dissecting disease mechanisms compared to SNP-level analysis.

Impact:

  • Enables deeper mining of GWAS data for disease mechanism insights.
  • Provides a framework for understanding the combined effects of genetic variations within genes.
  • Facilitates the identification of novel therapeutic targets and biomarkers for common diseases.