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szhan avatar szhan commented on August 12, 2024

Shouldn't the probability of match and probability of mismatch sum to 1? If that is the case, then I suspect there is a bug.

In this code snippet:

p_e = mu;
if (is_match) {
    p_e = 1 - (num_alleles - 1) * mu;
}

Probability of mismatch = mu
Probability of match = 1 - (num_alleles - 1) * mu

Their sum is not 1 when num_alleles > 2.

Probability of match should be (1 - mu), unless probability of mismatch is (num_alleles - 1) * mu.

EDIT: Please disregard the above. I didn't realise it's the Rosen & Paten (2019) formulation, which rescales the mutation rate based on the number of alleles at the site. So, not a bug.

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jeromekelleher avatar jeromekelleher commented on August 12, 2024

I agree it is a weird parameterisation, and doesn't belong in the core HMM. We should make this type of rescaling optional at the Python level.

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szhan avatar szhan commented on August 12, 2024

I'm just looking at how computation of emission probability is done in test_haplotype_matching.py. It seems like it is going with a slightly different interpretation of mu (when there is no scaling based on the number of alleles)?

if is_match:
    p_e = 1 - mu
else:
    p_e = mu / (n_alleles - 1)

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jeromekelleher avatar jeromekelleher commented on August 12, 2024

Maybe mu has been rescaled somewhere else? There may well be inconsistencies here, though

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