HWEP: Difference between revisions

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Hardy Weinberg equilibrium is expected in a panmictic population.  The following formulation is a likelihood ratio test statistic that incorporates genotype uncertainty via genotype likelihoods.
#REDIRECT [[Genotype Likelihood based Hardy-Weinberg Test]]
<math>P(R_{k}|\textbf{p})</math> is the probability of observing the reads for individual <math>k</math> assuming that a locus observes HWE.
<math>P(R_{k}|\textbf{g})</math>  is the probability of observing the reads for individual <math>k</math> assuming that a locus does not observe HWE.
<math>G_{i,j}</math> denotes the genotype composed of alleles <math>i</math> and <math>j</math> .  <math>k</math>  indexes the individuals from <math>1</math>  to <math> N</math> .
<math>P(R_{k} |G_{i,j})</math>  is the genotype likelihood.
<math>P(G_{i,j}|\textbf{p})</math> and <math>P(G_{i,j}|\textbf{g})</math> are the [[AF|genotype frequencies estimated with and without HWE assumption]] respectively.
 
<math>
\begin{align}
  L(R|g) & =  \frac{\prod_{k}{P(R_{k}|\textbf{p})}}
                    {\prod_{k}{P(R_{k}|\textbf{g})}} \\
        & =  \frac{\prod_{k}{\sum_{i,j}{P(R_{k}, G_{i,j}|\textbf{p})}}}
                    {\prod_{k}{\sum_{i,j}{P(R_{k}, G_{i,j}|\textbf{g})}}} \\
        & =  \frac{\prod_{k}{\sum_{i,j}{P(R_{k} |G_{i,j} )P(G_{i,j}|\textbf{p})}}}
                    {\prod_{k}{\sum_{i,j}{P(R_{k} |G_{i,j})P(G_{i,j}|\textbf{g})}}} \\
\end{align}
</math>
 
       
The likelihood ratio test statistic is as follows with <math>v</math> degrees of freedom where <math>n</math> is the number of alleles.
 
<math>
\begin{align}
  -2logL(R|g) \sim X^2_v, v  = \frac{n(n-1)}{2}
\end{align}
</math>
 
=== Maintained by  ===
 
This page is maintained by  [mailto:atks@umich.edu Adrian], formulation by Hyun.

Latest revision as of 13:40, 4 June 2013