Genome-Wide Association Studies

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Questions and Answers

What is the primary focus of GWA studies?

  • Investigating the function of a single gene
  • Examining rare alleles in a specific gene
  • Studying the correlation between SNPs and a particular trait (correct)
  • Analyzing the expression of a protein

What is the significance of the HapMap Project in GWA studies?

  • It offers a method for genotyping rare alleles
  • It facilitates the analysis of gene expression
  • It demonstrates the high correlation between neighboring SNPs (correct)
  • It provides a comprehensive database of all genetic mutations

What is the advantage of array-based technology in GWA studies?

  • It allows for the examination of variation across the whole genome in large samples (correct)
  • It enables the analysis of gene expression levels
  • It increases the cost of genotyping
  • It provides a method for studying rare alleles

What was a key lesson learned from early GWA studies?

<p>The need to study extremely large samples (A)</p> Signup and view all the answers

What is the target P value for GWA studies?

<p>Not specified in the content (A)</p> Signup and view all the answers

What is the main motivation for not genotyping all SNPs in GWA studies?

<p>Because many SNPs are highly correlated with neighboring SNPs (D)</p> Signup and view all the answers

What is a major challenge in GWA studies that requires extremely large sample sizes?

<p>The need to correct for multiple testing (D)</p> Signup and view all the answers

What has made it possible to examine variation across the whole genome in large samples?

<p>Array-based technology (B)</p> Signup and view all the answers

What is a characteristic of the common variants identified in GWA studies?

<p>They have a small odds ratio for risk (C)</p> Signup and view all the answers

What is a primary goal of GWA studies?

<p>To identify common alleles associated with a particular trait (B)</p> Signup and view all the answers

What is the estimated target P value for GWA studies?

<p>Not specified in the text (D)</p> Signup and view all the answers

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Study Notes

Genome-Wide Association (GWA) Studies

  • GWA studies examine common alleles throughout the genome for association with a particular trait.
  • The HapMap Project annotation of millions of single nucleotide polymorphisms (SNPs) has demonstrated that many SNPs are highly correlated with neighboring SNPs.
  • As a result, it is not necessary to genotype all SNPs to gain a nearly complete coverage of common variation in the genome.

Genotyping Technology

  • Array-based technology has made it possible to genotype millions of SNPs on a single array.
  • This technology has made the examination of variation across the whole genome in large samples more feasible.

Early GWA Studies

  • The earliest GWA studies were not particularly fruitful.
  • However, they provided useful lessons, including the need to study extremely large samples.
  • This is due to the need to correct for the enormous multiple testing involved and the small odds ratios for risk conferred by the common variants.

Statistical Significance

  • GWA studies require a target of P value of 5 x 10^-8 to ensure statistical significance.

Genome-Wide Association (GWA) Studies

  • GWA studies examine common alleles throughout the genome for association with a particular trait.
  • The HapMap Project annotation of millions of single nucleotide polymorphisms (SNPs) has demonstrated that many SNPs are highly correlated with neighboring SNPs.
  • As a result, it is not necessary to genotype all SNPs to gain a nearly complete coverage of common variation in the genome.

Genotyping Technology

  • Array-based technology has made it possible to genotype millions of SNPs on a single array.
  • This technology has made the examination of variation across the whole genome in large samples more feasible.

Early GWA Studies

  • The earliest GWA studies were not particularly fruitful.
  • However, they provided useful lessons, including the need to study extremely large samples.
  • This is due to the need to correct for the enormous multiple testing involved and the small odds ratios for risk conferred by the common variants.

Statistical Significance

  • GWA studies require a target of P value of 5 x 10^-8 to ensure statistical significance.

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