New adjustment factors and sample size calculation in a DNA-pooling experiment with preferential amplification.

作者: Hsin-Chou Yang , Chia-Ching Pan , Richard C. Y. Lu , Cathy S. J. Fann

DOI: 10.1534/GENETICS.104.032052

关键词:

摘要: In the post-genome era, disease gene mapping using dense genetic markers has become an important tool for dissecting complex inheritable diseases. Locating susceptibility genes DNA-pooling experiments is a potentially economical alternative to those involving individual genotyping. The foundation of successful association test precise and accurate estimation allele frequency. this article, we propose two new adjustment methods that correct preferential amplification nucleotides when estimating frequency single-nucleotide polymorphisms. We also discuss effect sample size calibrating unequal allelic amplification. conducted simulation studies assess performance different procedures found our proposed adjustments are more reliable with respect bias root mean square error compared current approach. improved not only improves accuracy precision estimations but leads powerful mapping.

参考文章(14)
Kate Downes, Bryan J. Barratt, Pelin Akan, Sue J. Bumpstead, Stacey D. Taylor, David G. Clayton, Panos Deloukas, SNP allele frequency estimation in DNA pools and variance components analysis. BioTechniques. ,vol. 36, pp. 840- 845 ,(2004) , 10.2144/04365RR01
Pak Sham, Joel S. Bader, Ian Craig, Michael O'Donovan, Michael Owen, DNA Pooling: a tool for large-scale association studies Nature Reviews Genetics. ,vol. 3, pp. 862- 871 ,(2002) , 10.1038/NRG930
Robert J Tibshirani, Bradley Efron, An introduction to the bootstrap ,(1993)
H. O. HARTLEY, A. Ross, Unbiased Ratio Estimators Nature. ,vol. 174, pp. 270- 271 ,(1954) , 10.1038/174270A0
Toshikazu Ito, Suenori Chiku, Eisuke Inoue, Makoto Tomita, Takayuki Morisaki, Hiroko Morisaki, Naoyuki Kamatani, Estimation of Haplotype Frequencies, Linkage-Disequilibrium Measures, and Combination of Haplotype Copies in Each Pool by Use of Pooled DNA Data American Journal of Human Genetics. ,vol. 72, pp. 384- 398 ,(2003) , 10.1086/346116
Peter M. Visscher, Stéphanie Le Hellard, Simple method to analyze SNP-based association studies using DNA pools. Genetic Epidemiology. ,vol. 24, pp. 291- 296 ,(2003) , 10.1002/GEPI.10240
Monika Werner, Michael Sych, Nicole Herbon, Thomas Illig, Inke R. König, Matthias Wjst, Large-scale determination of SNP allele frequencies in DNA pools using MALDI-TOF mass spectrometry. Human Mutation. ,vol. 20, pp. 57- 64 ,(2002) , 10.1002/HUMU.10094
A. Bansal, D. van den Boom, S. Kammerer, C. Honisch, G. Adam, C. R. Cantor, P. Kleyn, A. Braun, Association testing by DNA pooling: An effective initial screen Proceedings of the National Academy of Sciences of the United States of America. ,vol. 99, pp. 16871- 16874 ,(2002) , 10.1073/PNAS.262671399
Myint Tin, Comparison of Some Ratio Estimators Journal of the American Statistical Association. ,vol. 60, pp. 294- 307 ,(1965) , 10.1080/01621459.1965.10480792
R. Carmi, T. Rokhlina, A. E. Kwitek-Black, K. Elbedour, D. Nishimura, E. M. Stone, V. C. Sheffield, Use of a DNA pooling strategy to identify a human obesity syndrome locus on chromosome 15 Human Molecular Genetics. ,vol. 4, pp. 9- 13 ,(1995) , 10.1093/HMG/4.1.9