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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.
The text was updated successfully, but these errors were encountered:
ifokkema
changed the title
Create a batch HGVS checker on LOVD.nl
Variant syntax recognition and correction libraries, comparison with other tools, and dissemination.
Sep 9, 2022
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.lovd_getVariantInfo()
unit test set).(Update: Pete has the Variants In Journals endpoints for us to use)
The text was updated successfully, but these errors were encountered: