Methods of DNA marker-based genetic analysis using estimated haplotype frequencies and uses thereof

摘要

The present invention is primarily drawn to methods of DNA marker-based genetic analysis using estimated haplotype frequencies to draw inferences about the relationship between haplotypes and traits or diseases. Unlike many haplotype analysis methods that require phase information that can be difficult to obtain from samples of non-haploid species, the instant methods are based on strategies for estimating haplotype frequencies from unphased diploid genotype data using the Estimation-Maximization (E-M) algorithm to overcome the missing phase information. These estimated haplotype frequencies can then be used in a variety of statistical analyses, including those to infer the existence of a disease gene. The process can include: 1) estimating haplotype frequencies; 2) computing test statistics; and 3) drawing inferences.