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Graham McVicker edited Modeling Allelic Imbalance.tex
over 9 years ago
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\subsection{Modeling the allelic imbalances}
Allele-specific read counts are sometimes modelled using the binomial distribution \cite{Reddy_2012}, however, we have found that allele-specific read counts are overdispersed. We instead model allele-specific read counts with a beta-binomial (BB) distribution and
estimate include a parameter $\Upsilon_i$
(estimated separately) that captures the overdispersion for each individual. The likelihood of the
parameters data given the
data parameters is then:
\[
\textrm{L}\left(\alpha_h, \beta_h \textrm{L}\left(D \left|
D \alpha_h, \beta_h \right. \right) = \prod_i \prod_k \Pr_{\mathrm{BB}} \left( Y = y_{ik} \left| n_{ik}, p_h, \Upsilon_i \right. \right) \\
\]
where $y_{ik}$ is the number of allele-specific reads from the reference haplotype and $n_{ik}$ is the total number of allele-specific reads for individual $i$ at target SNP $k$. The expected fraction of allele-specific reads from the reference allele is $p_h = \frac{\alpha_h}{\alpha_h + \beta_h}$.