Phase uncertainty in case-control association studies.

  title={Phase uncertainty in case-control association studies.},
  author={Sungho Won and Sulgi Kim and Robert C. Elston},
  journal={Genetic epidemiology},
  volume={33 6},
The possible evidence for association comprises three types of information: differences between cases and controls in allele frequencies, in parameters for Hardy-Weinberg disequilibrium (HWD), and in parameters for linkage disequilibrium (LD). LD between marker and disease alleles results in a difference in at least one of the three types of parameters [Won and Elston, 2008]. However, the parameters for LD require knowledge about phase, which is usually unknown, making the LD contrast test… CONTINUE READING
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