Genetics, Vol. 166, 2001-2006, April 2004, Copyright © 2004

Recovering Frequencies of Known Haplotype Blocks From Single-Nucleotide Polymorphism Allele Frequencies

Itsik Pe'era and Jacques S. Beckmanna,b
a Department of Molecular Genetics, Weizmann Institute of Science, Rehovot, Israel 76100
b Département de Génétique Médicale, Lausanne-CHUV, Lausanne 1011, Switzerland

Corresponding author: Itsik Pe'er, Whitehead Institute, MIT Center for Genome Research, 1 Kendall Square, Bldg. 300, Cambridge, MA 02139-1561., peer{at}broad.mit.edu (E-mail)

Communicating editor: P. J. OEFNER

Prospects for large-scale association studies rely on economical methods and powerful analysis. Representing available SNPs by small subsets and measuring allele frequencies on pooled DNA samples each improve genotyping cost effectiveness, while haplotype analysis may highlight associations in otherwise underpowered studies. This manuscript provides the mathematical framework to integrate these methodologies.




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