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Suggestion: Build Ensembl transcript sequences by concatenating genomic exons #103

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davmlaw opened this issue Mar 21, 2023 · 3 comments
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enhancement New feature or request keep alive exempt issue from staleness checks

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@davmlaw
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davmlaw commented Mar 21, 2023

I have been told by Ensembl that:

Ensembl transcripts completely match the reference genome they are annotated against, so HGVS transcript level variant descriptions will be mapped to the reference genome and annotated accurately. Where the underlying reference sequence changed in the move from GRCh37 to GRCh38, we incremented the transcript version.

This means you could effectively get all Ensembl transcripts by making them from exon coordinates.

I have already implemented this - see Example code feel free to take

If you do your own liftover (ie produce Ensembl transcript alignments for a build where the sequence doesn't match) then this guarantee may be broken, perhaps only take official alignments?

Example use case: biocommons/hgvs#621

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This issue is stale because it has been open 30 days with no activity. Remove stale label or comment or this will be closed in 7 days.

@github-actions github-actions bot added the stale Issue is stale and subject to automatic closing label Sep 18, 2023
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This issue was closed because it has been stalled for 7 days with no activity.

@github-actions github-actions bot closed this as not planned Won't fix, can't repro, duplicate, stale Sep 25, 2023
@reece reece added stale closed Issue was closed automatically due to inactivity and removed stale closed Issue was closed automatically due to inactivity labels Nov 27, 2023
@reece reece reopened this Dec 8, 2023
@reece reece removed the stale Issue is stale and subject to automatic closing label Dec 8, 2023
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github-actions bot commented Mar 8, 2024

This issue is stale because it has been open 90 days with no activity. Remove stale label or comment or this will be closed in 7 days.

@github-actions github-actions bot added the stale Issue is stale and subject to automatic closing label Mar 8, 2024
@jsstevenson jsstevenson added enhancement New feature or request keep alive exempt issue from staleness checks and removed stale Issue is stale and subject to automatic closing labels Mar 12, 2024
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Labels
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