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Add parameter for using GRCh37 sequences #371

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jarbesfeld opened this issue Sep 25, 2024 · 1 comment
Open

Add parameter for using GRCh37 sequences #371

jarbesfeld opened this issue Sep 25, 2024 · 1 comment
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enhancement New feature or request priority:medium Medium priority

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@jarbesfeld
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Feature description

It is possible a user may want to represent GRCh37 data and not lift over to GRCh38. We should include a parameter that indicates if the user wants to lift over or not

Use case

There a fusion callers (such as GENIE) that may output GRCh37 genomic coordinates, and we want to represent those coordinates and not liftover to GRCh38.

Proposed solution

Add parameters in genomic_to_tx_segment that indicates what reference build the user would like to use and if liftover is needed.

Alternatives considered

No response

Implementation details

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Potential Impact

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Additional context

I can contribute to this

Contribution

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@jarbesfeld jarbesfeld added enhancement New feature or request priority:medium Medium priority labels Sep 25, 2024
@jsstevenson
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I wonder if there's a way that we could be defining these transformation functions more compositionally, so that you can construct these yourself instead of needing everything to be parameterized in the function

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Labels
enhancement New feature or request priority:medium Medium priority
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