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Dataprovider - get canonical / MANE transcript #747

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davmlaw opened this issue Aug 5, 2024 · 3 comments
Open

Dataprovider - get canonical / MANE transcript #747

davmlaw opened this issue Aug 5, 2024 · 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 Aug 5, 2024

There is often the need for picking 1 transcript for a gene. This is often referred to as the canonical transcript, and nowadays (clinically) is usually the MANE transcript

It would be good to add a method to data provider to be able to retrieve the MANE transcript from a gene name

Transcripts could also have a field/flag on them saying whether they are MANE transcripts

Once we have the data provider API done, implementations like UTA or cdot could implement them

This is necessary to implement #517

Also came up as a request for #743

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github-actions bot commented Nov 4, 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 Nov 4, 2024
@jsstevenson jsstevenson added keep alive exempt issue from staleness checks and removed stale Issue is stale and subject to automatic closing labels Nov 4, 2024
@davmlaw
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davmlaw commented Nov 7, 2024

The main question here is how to handle UTA implementation. It doesn't look like a modification to that will be available any time soon

I could make a shim around calls to UTA and implement MANE stuff by loading MANE.GRCh38.v1.4.summary.txt.gz - 1.1Mb

So you could either supply that file, or get a NotImplementedError thrown

I will have a crack at this when I get home (currently at a conference)

@andreasprlic
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This could be implemented somewhere around the get_tx_for_region method. Eg. as a second filter on top of the initial response, (only return tx_acs that are part of MANE transcripts).

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Labels
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