Research output: Contribution to Journal/Magazine › Journal article › peer-review
<mark>Journal publication date</mark> | 03/2009 |
---|---|
<mark>Journal</mark> | Human Heredity |
Issue number | 4 |
Volume | 67 |
Number of pages | 7 |
Pages (from-to) | 219-225 |
Publication Status | Published |
Early online date | 27/01/09 |
<mark>Original language</mark> | English |
BACKGROUND: Markers for individual genotyping can be selected using quantitative genotyping of pooled DNA. This strategy saves time and money.
METHODS: To determine the efficacy of this approach, we investigated the bivariate distribution of association test statistics from pooled and individual genotypes. We used a sample of approximately 1,000 samples with individual and pooled genotyping on 40,000 SNPs.
RESULTS AND CONCLUSIONS: We found that the distribution of the joint test statistics can be modelled as a mixture of two bivariate normal distributions. One distribution has a correlation of zero, and is probably due to SNPs whose pooled genotyping was unsuccessful. The other distribution has a correlation of approximately 0.65 in our data. This latter distribution is probably accounted for by SNPs whose pooled genotyping accurately predicts the underlying allele frequency. Approximately 87% of the data belongs to this distribution. We also derived a method to investigate the effect of both the correlation and selection cut-off on the relative power of pooling studies. We demonstrate that pooled genotyping has good power to detect SNPs that are truly associated with disease-causing variants for SNPs showing good correlation between pooled and individual genotyping. Therefore, this approach is a cost effective tool for association studies.