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Variant syntax recognition and correction libraries, comparison with other tools, and dissemination. #573

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ifokkema opened this issue Nov 12, 2021 · 0 comments

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@ifokkema
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ifokkema commented Nov 12, 2021

Depends on #566.

The internal LOVD function lovd_getVariantInfo() is currently being rebuilt by @loeswerkman, which adds detailed HGVS checks and informative error messages in the case that variants are not HGVS-conformant. It would be a waste not to use this code also more broadly. Especially since tools like VariantValidator and Mutalyzer sometimes seem to give very random-looking and unclear error messages, it would be beneficial to create a batch HGVS syntax checker for our LOVD website using our new function that provides useful error messages to guide users in the right direction to fix their non-HGVS variant descriptions.

  • Create a good set of correct and incorrect variant descriptions (e.g., our lovd_getVariantInfo() unit test set).
  • Run this set through the Variant Validator batch checker (note, this is a variant validator, not a syntax validator).
    (Update: Pete has the Variants In Journals endpoints for us to use)
  • Run this set through the Mutalyzer batch checker (the syntax checker).
  • Compare our error messages with theirs. Document this well so that we can use it for a detailed report.
  • See where we can improve if needed.
  • Send the list of variants and error messages to @PeteCausey-Freeman for feedback and to make sure our messages will be aligned.
  • Write a batch checker for LOVD.nl that does better. Details are added here.
  • Write up a manuscript on this new checker and include Loes and Pete (and possibly Pete's student(s)).
  • Will be worth disseminating on social media and in the HUGO newsletter.
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