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Wrong location in ExonGenomicCoordsMapper.transcript_to_genomic_coordinates
#345
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bug
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@jsstevenson I am resolving this in #224 . This was when we didn't know when to use start or end for the exon. @jarbesfeld has helped clear things up in the past few weeks! |
@jarbesfeld says this output from #352 is correct {
"gene": "NTRK1",
"genomic_ac": "NC_000001.11",
"tx_ac": "NM_002529.4",
"seg_start": {
"exon_ord": 0,
"offset": 0,
"genomic_location": {
"type": "SequenceLocation",
"sequenceReference": {
"type": "SequenceReference",
"refgetAccession": "SQ.Ya6Rs7DHhDeg7YaOSg1EoNi3U_nQ9SvO"
},
"start": 156860864
}
}
} |
korikuzma
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Aug 21, 2024
Close #345 and #332 * Update and fix bugs in`ExonGenomicCoordsMapper` * Change output for public methods in `ExonGenomicCoordsMapper` (leverage VRS Sequence Location and improve structure for transcript segment data). Renamed `warnings` to `errors`. * Resolve offset / genomic location bugs (#345 and #332) * Remove `mane_transcript` instance variable and use `mane_transcript_mappings` instead. * Refactor code that was unnecessary or extra. * Rename arguments in `genomic_to_tx_segment`: `alt_ac` -> `genomic_ac`, `genomic_start` -> ` seg_start_genomic`, `genomic_end` -> `seg_end_genomic` * pin `ga4gh.vrs` to `2.0.0a10` * Remove `get_genes_and_alt_acs` from `UtaDatabase`. Moved this to `ExonGenomicCoordsMapper` and renamed to `_get_genomic_ac_gene`. Will return single gene since genomic accessions are not needed anymore. --------- Co-authored-by: Jeremy Arbesfeld <[email protected]>
Closed by #352. |
korikuzma
added a commit
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Aug 21, 2024
Close #345 and #332 * Update and fix bugs in`ExonGenomicCoordsMapper` * Change output for public methods in `ExonGenomicCoordsMapper` (leverage VRS Sequence Location and improve structure for transcript segment data). Renamed `warnings` to `errors`. * Resolve offset / genomic location bugs (#345 and #332) * Remove `mane_transcript` instance variable and use `mane_transcript_mappings` instead. * Refactor code that was unnecessary or extra. * Rename arguments in `genomic_to_tx_segment`: `alt_ac` -> `genomic_ac`, `genomic_start` -> ` seg_start_genomic`, `genomic_end` -> `seg_end_genomic` * pin `ga4gh.vrs` to `2.0.0a10` * Remove `get_genes_and_alt_acs` from `UtaDatabase`. Moved this to `ExonGenomicCoordsMapper` and renamed to `_get_genomic_ac_gene`. Will return single gene since genomic accessions are not needed anymore. --------- Co-authored-by: Jeremy Arbesfeld <[email protected]>
korikuzma
added a commit
that referenced
this issue
Aug 21, 2024
Close #345 and #332 * Update and fix bugs in`ExonGenomicCoordsMapper` * Change output for public methods in `ExonGenomicCoordsMapper` (leverage VRS Sequence Location and improve structure for transcript segment data). Renamed `warnings` to `errors`. * Resolve offset / genomic location bugs (#345 and #332) * Remove `mane_transcript` instance variable and use `mane_transcript_mappings` instead. * Refactor code that was unnecessary or extra. * Rename arguments in `genomic_to_tx_segment`: `alt_ac` -> `genomic_ac`, `genomic_start` -> ` seg_start_genomic`, `genomic_end` -> `seg_end_genomic` * pin `ga4gh.vrs` to `2.0.0a10` * Remove `get_genes_and_alt_acs` from `UtaDatabase`. Moved this to `ExonGenomicCoordsMapper` and renamed to `_get_genomic_ac_gene`. Will return single gene since genomic accessions are not needed anymore. --------- Co-authored-by: Jeremy Arbesfeld <[email protected]>
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Describe the bug
The genomic location for an exon in the following lookup appears to be incorrect.
Steps to reproduce
run this
Expected behavior
I think this is the ending coordinate of exon 1, not the starting coordinate.
Also, I don't think this would matter, but this transcript aligns to the positive strand of chr1 (am I saying that right?) so there shouldn't be any weird "end is start and start is end" issues here
Current behavior
As noted above, the returned starting location is
156861145
Possible reason(s)
No response
Suggested fix
No response
Branch, commit, and/or version
The 0.5.1 release (it's what we have pinned for fusions) but I don't think it would be different on 0.6.0
Screenshots
No response
Environment details
mac
Additional details
No response
Contribution
Yes, I can create a PR for this fix.
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