Skip to content

support heteroplasmy/homoplasmy #432

@aslgraefe

Description

@aslgraefe

When trying to run GPSEA on a cohort with mitochondrial variants and heteroplasmic/homoplasmic variants we received a ValueError (see below). It would be interesting to have GPSEA support mitochondrial diseases, too.

---------------------------------------------------------------------------
ValueError                                Traceback (most recent call last)
Cell In[8], [line 5](vscode-notebook-cell:?execution_count=8&line=5)
      [3](vscode-notebook-cell:?execution_count=8&line=3) cohort_creator = configure_caching_cohort_creator(hpo)
      [4](vscode-notebook-cell:?execution_count=8&line=4) pp_dir = '/Users/adam/Documents/test/rarelink/irud_test/mito_pheno/phenopackets'
----> [5](vscode-notebook-cell:?execution_count=8&line=5) cohort, qc_results = load_phenopacket_folder(pp_dir, cohort_creator)

File ~/Documents/git/gpsea-cs/gpcvenv/lib/python3.12/site-packages/gpsea/preprocessing/_config.py:440, in load_phenopacket_folder(pp_directory, cohort_creator, validation_policy)
    [437](https://file+.vscode-resource.vscode-cdn.net/Users/adam/Documents/git/gpsea-cs/irud_test/~/Documents/git/gpsea-cs/gpcvenv/lib/python3.12/site-packages/gpsea/preprocessing/_config.py:437) pp_files = _find_phenopacket_files(pp_directory)
    [439](https://file+.vscode-resource.vscode-cdn.net/Users/adam/Documents/git/gpsea-cs/irud_test/~/Documents/git/gpsea-cs/gpcvenv/lib/python3.12/site-packages/gpsea/preprocessing/_config.py:439) # Map to patients
--> [440](https://file+.vscode-resource.vscode-cdn.net/Users/adam/Documents/git/gpsea-cs/irud_test/~/Documents/git/gpsea-cs/gpcvenv/lib/python3.12/site-packages/gpsea/preprocessing/_config.py:440) return load_phenopacket_files(
    [441](https://file+.vscode-resource.vscode-cdn.net/Users/adam/Documents/git/gpsea-cs/irud_test/~/Documents/git/gpsea-cs/gpcvenv/lib/python3.12/site-packages/gpsea/preprocessing/_config.py:441)     pp_files=pp_files,
    [442](https://file+.vscode-resource.vscode-cdn.net/Users/adam/Documents/git/gpsea-cs/irud_test/~/Documents/git/gpsea-cs/gpcvenv/lib/python3.12/site-packages/gpsea/preprocessing/_config.py:442)     cohort_creator=cohort_creator,
    [443](https://file+.vscode-resource.vscode-cdn.net/Users/adam/Documents/git/gpsea-cs/irud_test/~/Documents/git/gpsea-cs/gpcvenv/lib/python3.12/site-packages/gpsea/preprocessing/_config.py:443)     validation_policy=validation_policy,
    [444](https://file+.vscode-resource.vscode-cdn.net/Users/adam/Documents/git/gpsea-cs/irud_test/~/Documents/git/gpsea-cs/gpcvenv/lib/python3.12/site-packages/gpsea/preprocessing/_config.py:444) )

File ~/Documents/git/gpsea-cs/gpcvenv/lib/python3.12/site-packages/gpsea/preprocessing/_config.py:464, in load_phenopacket_files(pp_files, cohort_creator, validation_policy)
    [447](https://file+.vscode-resource.vscode-cdn.net/Users/adam/Documents/git/gpsea-cs/irud_test/~/Documents/git/gpsea-cs/gpcvenv/lib/python3.12/site-packages/gpsea/preprocessing/_config.py:447) def load_phenopacket_files(
    [448](https://file+.vscode-resource.vscode-cdn.net/Users/adam/Documents/git/gpsea-cs/irud_test/~/Documents/git/gpsea-cs/gpcvenv/lib/python3.12/site-packages/gpsea/preprocessing/_config.py:448)     pp_files: typing.Iterator[str],
    [449](https://file+.vscode-resource.vscode-cdn.net/Users/adam/Documents/git/gpsea-cs/irud_test/~/Documents/git/gpsea-cs/gpcvenv/lib/python3.12/site-packages/gpsea/preprocessing/_config.py:449)     cohort_creator: CohortCreator[Phenopacket],
    [450](https://file+.vscode-resource.vscode-cdn.net/Users/adam/Documents/git/gpsea-cs/irud_test/~/Documents/git/gpsea-cs/gpcvenv/lib/python3.12/site-packages/gpsea/preprocessing/_config.py:450)     validation_policy: typing.Literal["permissive", "lenient", "strict"] = "permissive",
    [451](https://file+.vscode-resource.vscode-cdn.net/Users/adam/Documents/git/gpsea-cs/irud_test/~/Documents/git/gpsea-cs/gpcvenv/lib/python3.12/site-packages/gpsea/preprocessing/_config.py:451) ) -> typing.Tuple[Cohort, PreprocessingValidationResult]:
    [452](https://file+.vscode-resource.vscode-cdn.net/Users/adam/Documents/git/gpsea-cs/irud_test/~/Documents/git/gpsea-cs/gpcvenv/lib/python3.12/site-packages/gpsea/preprocessing/_config.py:452)     """
    [453](https://file+.vscode-resource.vscode-cdn.net/Users/adam/Documents/git/gpsea-cs/irud_test/~/Documents/git/gpsea-cs/gpcvenv/lib/python3.12/site-packages/gpsea/preprocessing/_config.py:453)     Load phenopacket JSON files, validate the data, and assemble into a :class:`~gpsea.model.Cohort`.
    [454](https://file+.vscode-resource.vscode-cdn.net/Users/adam/Documents/git/gpsea-cs/irud_test/~/Documents/git/gpsea-cs/gpcvenv/lib/python3.12/site-packages/gpsea/preprocessing/_config.py:454) 
...
     [73](https://file+.vscode-resource.vscode-cdn.net/Users/adam/Documents/git/gpsea-cs/irud_test/~/Documents/git/gpsea-cs/gpcvenv/lib/python3.12/site-packages/gpsea/preprocessing/_phenopacket.py:73)     return Genotype.HEMIZYGOUS
     [74](https://file+.vscode-resource.vscode-cdn.net/Users/adam/Documents/git/gpsea-cs/irud_test/~/Documents/git/gpsea-cs/gpcvenv/lib/python3.12/site-packages/gpsea/preprocessing/_phenopacket.py:74) else:
---> [75](https://file+.vscode-resource.vscode-cdn.net/Users/adam/Documents/git/gpsea-cs/irud_test/~/Documents/git/gpsea-cs/gpcvenv/lib/python3.12/site-packages/gpsea/preprocessing/_phenopacket.py:75)     raise ValueError(f"Unknown genotype {genotype}")

ValueError: Unknown genotype heteroplasmic

Metadata

Metadata

Assignees

No one assigned

    Labels

    No labels
    No labels

    Type

    No type

    Projects

    No projects

    Milestone

    No milestone

    Relationships

    None yet

    Development

    No branches or pull requests

    Issue actions