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The definition contains 25 SNPs, 4 deletions, and 1 MNP. However, for a confirmed result, requires 27 mutations, 0 indels. If the MNP counts as a single mutation and deletions are not counted in the mutations-required count, then we can only ever call a sample as 'probable'.
Should an MNP count as a single mutation? Or should it count as the total contiguous SNPs covered by the MNP?
In the omicron definition v0.6.1: https://github.com/phe-genomics/variant_definitions/blob/0.6.1/variant_yaml/pentagon-refining.yml
The definition contains 25 SNPs, 4 deletions, and 1 MNP. However, for a confirmed result, requires 27 mutations, 0 indels. If the MNP counts as a single mutation and deletions are not counted in the
mutations-required
count, then we can only ever call a sample as 'probable'.The text was updated successfully, but these errors were encountered: