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Display MANE status of transcript in results table #2205

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stolpeo opened this issue Jan 24, 2025 · 2 comments
Open

Display MANE status of transcript in results table #2205

stolpeo opened this issue Jan 24, 2025 · 2 comments
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enhancement New feature or request

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@stolpeo
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stolpeo commented Jan 24, 2025

Is your feature request related to a problem? Please describe.
We need to display in the results table if a transcript is a MANE transcript or not.

@stolpeo stolpeo added the enhancement New feature or request label Jan 24, 2025
@stolpeo
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stolpeo commented Jan 24, 2025

Currently the information of an annotated and imported variant if a transcript is a MANE transcript or not is not held in the database and is also not emitted by mehari in the to-be-imported tsv file.

  1. mehari would need to output a boolean flag or similar which indicates that the annotated transcript was a MANE transcript
  2. the varfish server model for small variants needs to be extended with such a field (mane = fields.Boolean())
  3. the varfish importer needs to be able to ingest this additional value
  4. the varfish query needs to be extended to handle this transcript (for now, no filter, only output the value)
  5. the varfish results table needs to be extended to display this value
  6. tests, tests, tests! as this is touching a core feature
  7. backwards compatibility with old imported data needs to be clarified (mane = false as default for old variants?)

@Nicolai-vKuegelgen
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A few comments:

  • For vcf output mehari can already write out a "Transcript_BioType" filed, which is a string that includes Mane designation
  • Using a string instead of boolean in Varfish might be benefical for the future:
    • Right now the variants results table for previously imported variants would show "not Mane" either way, but setting the default to "unknown" would be more correct and therefore make future UI updates easier
    • Similarly if the need arises to differentiate more transcript designations in the future having a string field for transcript type would be more helpful
    • finally It'd be easier to switch to vcf files as input for import (instead of tsv) if we use the same fileds that mehari annotated vcfs already have

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