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Related Concept Videos

Genome-wide Association Studies-GWAS01:11

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.
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In Vivo Modeling of the Morbid Human Genome using Danio rerio
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Published on: August 24, 2013

Genetic mapping in human disease.

David Altshuler1, Mark J Daly, Eric S Lander

  • 1Broad Institute of Harvard and MIT, Cambridge, MA 02142, USA. altshuler@molbio.mgh.harvard.edu

Science (New York, N.Y.)
|November 8, 2008
PubMed
Summary
This summary is machine-generated.

Genetic mapping identifies genes for inherited traits and diseases. This review covers Mendelian and complex traits, linkage analysis, and genome-wide association studies for future research directions.

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Area of Science:

  • Genetics
  • Human Biology
  • Bioinformatics

Background:

  • Genetic mapping is crucial for understanding traits and diseases influenced by inheritance.
  • It aids in identifying specific genes and biological pathways involved.

Purpose of the Study:

  • To review the foundations of genetic mapping for Mendelian and complex human traits.
  • To analyze lessons from linkage analysis and genome-wide association studies.
  • To identify future challenges and research questions in genetic mapping.

Main Methods:

  • Review of intellectual foundations of genetic mapping.
  • Examination of linkage analysis for Mendelian diseases.
  • Analysis of genome-wide association studies for common diseases.

Main Results:

  • Established principles of genetic mapping for human traits.
  • Insights from successful applications in Mendelian and complex diseases.
  • Identified key areas for future investigation.

Conclusions:

  • Genetic mapping is a vital tool for dissecting the genetic basis of human traits and diseases.
  • Past studies provide a strong foundation for future genetic research.
  • Ongoing challenges require innovative approaches in genetic analysis.