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Update exon selection offset to consider cases where breakpoint occurs before or after a transcript #380

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jarbesfeld opened this issue Dec 3, 2024 · 2 comments · Fixed by #381
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bug Something isn't working priority:high High priority

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@jarbesfeld
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jarbesfeld commented Dec 3, 2024

Describe the bug

There are cases where a breakpoint can occur before or after a transcript (i.e. in the untranslated region, or UTR). We should check for these cases when selecting the adjacent exon.

Steps to reproduce

resp = test_egc_mapper._get_adjacent_exon(
        tx_exons_genomic_coords=nm_152263_exons_genomic_coords,
        start=154192102,
        strand=Strand.POSITIVE,
    )

Expected behavior

This should output 1, since this occurs two bases before the transcription start site of exon 1

Current behavior

This returns exon 10, as it iterates through the whole exon list since this breakpoint occurs outside of the transcript range

Possible reason(s)

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Suggested fix

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Branch, commit, and/or version

Main branch

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Environment details

Mac M1

Additional details

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Contribution

Yes, I can create a PR for this fix.

@korikuzma
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@jarbesfeld is this similar to #361?

@jarbesfeld
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@korikuzma Yes this includes a fix to the logic described in #361. I realized when looking at the GENIE data that there can be breakpoint before or after the transcript (e.g. Promoter of AOC4P(+):3Kb from tx start), so I thought it would be good to add this fix

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