Create noisy phenopackets
HpoRandomiser
Class for randomising phenopacket phenotypic features using Human Phenotype Ontology (HPO).
Source code in src/pheval/prepare/create_noisy_phenopackets.py
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__init__(hpo_ontology, scramble_factor)
Initialise the HpoRandomiser.
Parameters:
Name | Type | Description | Default |
---|---|---|---|
hpo_ontology
|
ProntoImplementation
|
The instance of the HPO ontology. |
required |
scramble_factor
|
float
|
A factor for scrambling phenotypic features. |
required |
Source code in src/pheval/prepare/create_noisy_phenopackets.py
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add_noise_to_phenotypic_profile(phenopacket)
Randomise the phenotypic profile of a Phenopacket or Family.
Parameters:
Name | Type | Description | Default |
---|---|---|---|
phenopacket
|
Union[Phenopacket, Family]
|
The Phenopacket or Family to be randomised. |
required |
Returns:
Type | Description |
---|---|
Union[Phenopacket, Family]
|
Union[Phenopacket, Family]: The randomised Phenopacket or Family. |
Source code in src/pheval/prepare/create_noisy_phenopackets.py
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convert_patient_terms_to_parent(phenotypic_features, retained_phenotypic_features, number_of_scrambled_terms)
Convert a subset of patient HPO terms to their respective parent terms.
Parameters:
Name | Type | Description | Default |
---|---|---|---|
phenotypic_features
|
List[PhenotypicFeature]
|
List of all phenotypic features. |
required |
retained_phenotypic_features
|
List[PhenotypicFeature]
|
List of retained non-scrambled phenotypic features. |
required |
number_of_scrambled_terms
|
int
|
The count of scrambled HPO terms. |
required |
Returns:
Type | Description |
---|---|
List[PhenotypicFeature]
|
List[PhenotypicFeature]: A list of HPO terms converted to their parent terms. |
Note
This method identifies a subset of patient HPO terms that are not retained among the non-scrambled phenotypic features and converts them to their respective parent terms. It then returns a list of parent HPO terms based on the provided scrambled terms count. If no remaining HPO terms are available for conversion, no parent terms are returned.
Source code in src/pheval/prepare/create_noisy_phenopackets.py
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create_random_hpo_terms(number_of_scrambled_terms)
Generate a list of random HPO terms.
Parameters:
Name | Type | Description | Default |
---|---|---|---|
number_of_scrambled_terms
|
int
|
The count of random HPO terms to be generated. |
required |
Returns:
Type | Description |
---|---|
List[PhenotypicFeature]
|
List[PhenotypicFeature]: A list of randomly selected HPO terms. |
Source code in src/pheval/prepare/create_noisy_phenopackets.py
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create_scrambled_phenopacket(output_dir, phenopacket_path)
Create a scrambled version of a Phenopacket.
Parameters:
Name | Type | Description | Default |
---|---|---|---|
output_dir
|
Path
|
The directory to store the output scrambled Phenopacket. |
required |
phenopacket_path
|
Path
|
The path to the original Phenopacket file. |
required |
Source code in src/pheval/prepare/create_noisy_phenopackets.py
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create_scrambled_phenopackets(output_dir, phenopacket_dir)
Create scrambled versions of Phenopackets within a directory.
Parameters:
Name | Type | Description | Default |
---|---|---|---|
output_dir
|
Path
|
The directory to store the output scrambled Phenopackets. |
required |
phenopacket_dir
|
Path
|
The directory containing the original Phenopacket files. |
required |
Source code in src/pheval/prepare/create_noisy_phenopackets.py
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randomise_hpo_terms(phenotypic_features)
Randomise the provided phenotypic features by combining retained, parent-converted, and random HPO terms.
Parameters:
Name | Type | Description | Default |
---|---|---|---|
phenotypic_features
|
List[PhenotypicFeature]
|
List of phenotypic features to be randomised. |
required |
Returns:
Type | Description |
---|---|
List[PhenotypicFeature]
|
List[PhenotypicFeature]: A list of randomised HPO terms. |
Note
This method randomises the provided phenotypic features by incorporating three types of HPO terms: 1. Retained Patient Terms: Non-scrambled (real patient) HPO terms retained based on the scramble factor. 2. Converted to Parent Terms: Subset of HPO terms converted to their respective parent terms. 3. Random HPO Terms: Newly generated random HPO terms based on the scramble factor.
The method determines the count of terms for each category and combines them to form a final list of randomised HPO terms to be used in the phenotypic features.
Source code in src/pheval/prepare/create_noisy_phenopackets.py
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retain_real_patient_terms(phenotypic_features, number_of_scrambled_terms)
staticmethod
Return a list of real patient HPO terms, retaining a specific number of non-scrambled terms.
Parameters:
Name | Type | Description | Default |
---|---|---|---|
phenotypic_features
|
List[PhenotypicFeature]
|
List of phenotypic features. |
required |
number_of_scrambled_terms
|
int
|
The count of scrambled HPO terms. |
required |
Returns:
Type | Description |
---|---|
List[PhenotypicFeature]
|
List[PhenotypicFeature]: A list of non-scrambled (real patient) HPO terms. |
Source code in src/pheval/prepare/create_noisy_phenopackets.py
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retrieve_hpo_term(hpo_id)
Retrieve an HPO term based on the provided HPO ID.
Parameters:
Name | Type | Description | Default |
---|---|---|---|
hpo_id
|
str
|
The HPO ID of the term to retrieve. |
required |
Returns:
Name | Type | Description |
---|---|---|
PhenotypicFeature |
PhenotypicFeature
|
The PhenotypicFeature object representing the retrieved HPO term. |
Source code in src/pheval/prepare/create_noisy_phenopackets.py
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scramble_factor_proportions(phenotypic_features)
Calculate the proportion of scrambled HPO terms based on the scramble factor.
Parameters:
Name | Type | Description | Default |
---|---|---|---|
phenotypic_features
|
list[PhenotypicFeature]
|
List of phenotypic features. |
required |
Returns:
Name | Type | Description |
---|---|---|
int |
int
|
The calculated number of phenotypic features to be scrambled. |
Source code in src/pheval/prepare/create_noisy_phenopackets.py
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load_ontology(local_cached_ontology=None)
Load the Human Phenotype Ontology (HPO). Args: local_cached_ontology(Path): Path to the local cached ontology. Returns: ProntoImplementation: An instance of ProntoImplementation containing the loaded HPO.
Source code in src/pheval/prepare/create_noisy_phenopackets.py
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scramble_phenopackets(output_dir, phenopacket_path, phenopacket_dir, scramble_factor, local_cached_ontology)
Create scrambled phenopackets from either a single phenopacket or a directory of phenopackets.
Parameters:
Name | Type | Description | Default |
---|---|---|---|
output_dir
|
Path
|
The directory to store the output scrambled Phenopackets. |
required |
phenopacket_path
|
Path
|
The path to a single Phenopacket file (if applicable). |
required |
phenopacket_dir
|
Path
|
The directory containing multiple Phenopacket files (if applicable). |
required |
scramble_factor
|
float
|
A factor determining the level of scrambling for phenotypic features. |
required |
local_cached_ontology
|
Path
|
The path to the local cached ontology. |
required |
Source code in src/pheval/prepare/create_noisy_phenopackets.py
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