What a GWAS success tells you if you achieve genomewide significance, and youve ruled out population - PowerPoint PPT Presentation

1 / 4
About This Presentation
Title:

What a GWAS success tells you if you achieve genomewide significance, and youve ruled out population

Description:

Which of the many variants in strong LD with the best SNP is actually the causative allele(s) ... regions to find causative variants. Functional analysis ... – PowerPoint PPT presentation

Number of Views:72
Avg rating:3.0/5.0
Slides: 5
Provided by: fnih
Category:

less

Transcript and Presenter's Notes

Title: What a GWAS success tells you if you achieve genomewide significance, and youve ruled out population


1
What a GWAS success tells youif you achieve
genome-wide significance, and youve ruled out
population stratification or some technical
problem with the genotypes
  • There is a common variant located somewhere in a
    segment of 3 100 kb that is associated with
    risk of disease (or quantitative trait) in the
    particular population studied

2
What it doesnt tell you
  • Whether this same variant carries the same or
    similar risk in other populations
  • Which of the many variants in strong LD with the
    best SNP is actually the causative allele(s)
  • What the contribution of this variant would be in
    a population-based prospective study
  • How this variant interacts with the environment
  • Whether this variant contributes to health
    disparities
  • What the functional basis of the risk is
  • Whether this finding will be useful clinically
    in diagnosis, prediction of response to therapy,
    or as a new drug target

3
Initial Genome-Wide Association Study
Data Analysis
Additional populations/health disparities
Sequencing interesting regions to find causative
variants
Functional analysis
Translation - Diagnostics - Therapeutics
4
Possible discussion topicsfor the panel
  • Where is all the missing heredity?
  • How can we find less common alleles of larger
    effect?
  • Are we doing a good job of looking for
    interactions?
  • Do we need a deeper database of human genetic
    variation?
  • Could gene expression data from multiple tissues
    in genotyped donors help us with functional
    analysis?
Write a Comment
User Comments (0)
About PowerShow.com