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Graham McVicker edited Correcting for incorrect genotype calls.tex
almost 10 years ago
Commit id: 0e503ca1b783cc5f3581e10d23d25394c3f14d68
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diff --git a/Correcting for incorrect genotype calls.tex b/Correcting for incorrect genotype calls.tex
index 18fba5d..3fcadd5 100644
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+ \Pr_{\mathrm{BB}} \left(Y_{ik} = y_{ik} \left| 1-p_{\textrm{err}}, n_{ik}, \Upsilon_i \right. \right) \right] &
\end{eqnarray*}
We found that even SNPs with heterozygous probabilities of 1.0 are occasionally miscalled so we set heterozygous probabilities to a maximum value of 0.99. We then update this heterozygous probability using sequencing data obtained from the same individual. Sequencing data may consist of DNA
sequence sequencing reads or reads
that are aggregated across
from multiple types of experiments performed on the same individual (e.g. RNA-seq and ChIP-seq reads).
For a SNP with heterozygous probability $H_{ik} = \min(0.99, H_{ik}^{\textrm{obs}})$, we define the updated heterozygous probability, $\hat{H}_{ik}$ as:
\[
\hat{H}_{ik} = \frac{H \Pr_{\mathrm{Bin}} \left( D \left| p=0.5 \right. \right)}
{H_{ik} \Pr_{\mathrm{Bin}} \left( D \left| p=0.5 \right. \right)
+ (1 - H_{ik}) \left[ \Pr_{\mathrm{Bin}} \left( D \left| p=p_{err} \right. \right) + \Pr_{\mathrm{Bin}} \left( D \left|
p=1-p_{err} p=1-p_{\textrm{err}} \right. \right) \right]}
\]
where $D$ represents the observed read count data and $p_{err}$ is the probability of a sequencing error.