Challenges in the identification and use of rare disease-associated predisposition variants.

Abstract excerpt

The case for identifying rare, disease-associated germline variants rather than undertaking larger genome-wide association (GWA) studies for common variants is increasingly being advocated. I agree with the importance of identifying rare variation in human disease, but believe more thought needs to be put into the limitations of such enterprises before advocating a dramatic departure from the GWA approach. In...

Topics

• Alleles
• Genetic Predisposition to Disease
• Genetic Variation
• Genome-Wide Association Study
• Humans
• Mutation
• Rare Diseases