diff --git a/README.md b/README.md index 3a56579aeff8f792ffa43f4d0662bf0f26151804..012a0cf2ca0943025a9937c97bb6af737e0af775 100644 --- a/README.md +++ b/README.md @@ -11,33 +11,7 @@ sequence for the list of SNP markers.  ## Hidden Markov Model configuration - -- Observations. The allele specific counts across the informative SNP markers for -each chromosome in each sperm cell. - -- States. Sperm cells have haploid genomes. There are two possible hidden states (haplotypes) -corresponding to a REF or ALT segment in the haploid genome. At each SNP site $i$, -there are two hidden states: $s_{i}= 0$ corresponds to ALT segment while $s_i=1$ -corresponds to REF segment. - -- Emission probabilities. Two binomial distributions were used for modelling the -emission probabilities for sperm cells at each SNP marker. For each site $s_i$ - $$ c = c_r + c_a ~,$$ - $$c_a |_{s = 0} \sim Bin(c,\theta_{ALT} ) ~,$$ - $$c_a |_{s = 1}\sim Bin(c,\theta_{REF} ) ~.$$ - -- Transition Probabilities}. A distance-dependent transition probability [[1]](#1) -was applied, which corresponded to an average of `--cmPmb` cM (centiMorgan) per 1Mb -(1 million base pairs): - $$p_{ij} = 1-e^{(-d_{ij}\mathbf{x}0.5\mathbf{x}10^{-8})} ~,$$ -where $p_{ij}$ is the transition probability of transitioning to a different -state at SNP $j$ from SNP $i$, and $d_{ij}$ denotes the physical base-pair -distances between SNP $i$ and SNP $j$. - -- Initial probabilities. The initial probabilities for the two hidden states -were set to be both 0.5 since they were equally likely to happen. - - + ## Inputs diff --git a/images/HMM-sscocaller.PNG b/images/HMM-sscocaller.PNG new file mode 100644 index 0000000000000000000000000000000000000000..700309d4d7828429bdf439d250151e16a36d6a7a Binary files /dev/null and b/images/HMM-sscocaller.PNG differ