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BFF to PXF

Information

The Phenopacket v2 schema enforces the presence of specific properties to achieve successful validation. We display in parenthesis the fields that are employed to guarantee conformity.

Version 0.31

Target model: Phenopackets v2

Entity: phenopacket

Terms

id

Source field Target field Notes
Generated by convert-pheno id Omitted in --test mode

subject

Source field Target field Notes
id subject.id Direct
info.phenopacket.vitalStatus subject.vitalStatus Preferred source
info.vitalStatus subject.vitalStatus Fallback preserved source
--default-vital-status subject.vitalStatus.status Used when no preserved source value is available
ALIVE subject.vitalStatus.status Built-in fallback when no preserved source value or CLI default is available
sex subject.sex Normalized to the Phenopackets enum
info.phenopacket.dateOfBirth subject.dateOfBirth Preferred source
info.dateOfBirth subject.dateOfBirth Fallback source
karyotypicSex subject.karyotypicSex Direct

phenotypicFeatures

Source field Target field Notes
phenotypicFeatures.featureType phenotypicFeatures.type Renamed
phenotypicFeatures.excluded phenotypicFeatures.excluded Direct; defaults to false when absent
phenotypicFeatures.onset phenotypicFeatures.onset Wrapped back into a Phenopackets time element
phenotypicFeatures.resolution phenotypicFeatures.resolution Wrapped back into a Phenopackets time element
phenotypicFeatures.evidence phenotypicFeatures.evidence[] Beacon object is emitted as a one-item array
phenotypicFeatures.evidence.info.phenopacket.evidence[] phenotypicFeatures.evidence[] Preferred when the original array was preserved
phenotypicFeatures.evidence.reference.notes phenotypicFeatures.evidence.reference.description Renamed back to the Phenopackets term

measurements

Source field Target field Notes
measures.assayCode measurements.assay Renamed
measures.measurementValue measurements.value Used for plain values
measures.measurementValue.typedQuantities measurements.complexValue.typedQuantities Used for complex values
measures.measurementValue.typedQuantities.quantityType measurements.complexValue.typedQuantities.type Inner key renamed
measures.observationMoment measurements.timeObserved Wrapped back into a Phenopackets time element
measures.date measurements.timeObserved.timestamp Used only when observationMoment is absent
measures.procedure measurements.procedure Nested procedure is remapped with the same rules

biosamples

Source field Target field Notes
info.phenopacket.biosamples biosamples Restored when present

interpretations

Source field Target field Notes
info.phenopacket.interpretations interpretations Restored when present

genes

Source field Target field Notes
info.phenopacket.genes genes Restored when present

variants

Source field Target field Notes
info.phenopacket.variants variants Restored when present

diseases

Source field Target field Notes
diseases.diseaseCode diseases.term Renamed
diseases.ageOfOnset diseases.onset Wrapped back into a Phenopackets time element

medicalActions

Source field Target field Notes
interventionsOrProcedures.procedureCode medicalActions.procedure.code Renamed
interventionsOrProcedures.bodySite medicalActions.procedure.bodySite Direct when present
interventionsOrProcedures.ageAtProcedure medicalActions.procedure.performed Preferred source for procedure timing
interventionsOrProcedures.dateOfProcedure medicalActions.procedure.performed.timestamp Used when ageAtProcedure is absent
treatments.treatmentCode medicalActions.treatment.agent Renamed
treatments.routeOfAdministration medicalActions.treatment.routeOfAdministration Direct
treatments.doseIntervals medicalActions.treatment.doseIntervals Direct

exposures

Source field Target field Notes
exposures Not emitted Phenopackets v2 Phenopacket does not define top-level exposures

files

Source field Target field Notes
info.phenopacket.files files Restored when present

pedigree

Source field Target field Notes
info.phenopacket.pedigree pedigree Restored when present

metaData

Source field Target field Notes
info.phenopacket.metaData metaData Preferred source
info.metaData metaData Fallback source
Generated by convert-pheno metaData Used when no preserved metadata is available and --test is not enabled