SNPEM is used to assess the accuracy of haplotype frequency estimation as a function of such factors as sample size, number of loci studied, allele frequencies and locus-specific allelic departures from Hardy-Weinberg and linkage equilibrium. Many haplotype-analysis methods require phase information, which can be difficult to obtain from samples of non-haploid species. SNPEM, which employs strategies for estimating haplotype frequencies from unphased diploid genotype data collected on a sample of individuals, uses the expectation-maximization (EM) algorithm to overcome the missing phase information. SNPEM, which was developed by Nicholas J. Schork, Ph.D., Director of Biostatistics and Bioinformatics at STSI, is protected by U.S. patent.
For more information:
- Accuracy of haplotype frequency estimation for biallelic loci, via the expectation-maximization algorithm for unphased diploid genotype data. Fallin D, Schork NJ. Am J Hum Genet. 67(4): 947-59. 2000 Oct. PMID:10954684.