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Why do some definitions have mutations specified in the rules?

Rachel Colquhoun edited this page Mar 17, 2022 · 1 revision

There are examples of lineages where we want to be very specific about the mutations present. Two examples:

  1. B.1.1.7 + E484K

    This constellation was defined by being classified as B.1.1.7 (Alpha) and having the E484K mutation. At the time of definition, scorpio was not set up to handle parent/child constellations, so we handled this by requiring that where 2 constellations were classified as True, we tie break first by number of rules, and secondly by support (a parent is always going to have more support than a child). It would be possible now to reconfigure these constellation files with the parent/child relationship specified.

  2. AY.4

    The definition of this lineage has 1 crucial defining mutation orf1a:A2529V and we only want to classify sequences which have this mutation. There are other defining mutations, but we do require orf1a:A2529V.