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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.
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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
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