Using DNA Pools for Cost-Effective Genomewide Association Studies
Author Information
Author(s): Docherty Sophia J, Butcher Lee M, Schalkwyk Leonard C, Plomin Robert
Primary Institution: Institute of Psychiatry, King's College London
Hypothesis
Can pooled DNA on SNP microarrays be effectively used for genomewide association studies?
Conclusion
The SNP-MaP method is reliable and valid for initial screening of 500 K SNP microarrays in genomewide association studies.
Supporting Evidence
- The SNP-MaP approach showed high reliability with an average correlation of 0.948 across five DNA pools.
- Validity was demonstrated with a rank-order correlation of 0.937 between pooled DNA estimates and individual genotyping data.
- Detection rates for the 500 K GeneChip® ranged from 87.9% to 97.9%.
Takeaway
Scientists can mix DNA from many people to find genetic differences that might cause diseases, and this method works well with a new type of DNA test.
Methodology
Five independent DNA pools were created from a sample of 1028 individuals and analyzed using the Affymetrix GeneChip® Mapping 500 K Array.
Potential Biases
Potential bias due to unequal representation of SNP alleles in pooled DNA.
Limitations
The study's validity was assessed using a relatively small sample size, and individual genotypes could not be extracted from pooled DNA.
Participant Demographics
1028 white Caucasian individuals (538 females and 490 males).
Statistical Information
P-Value
0.01
Statistical Significance
p<0.05
Digital Object Identifier (DOI)
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