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- Individual: rename sex→sex_assigned_at_birth (optional, +enum), gender→gender_identity (+enum), dateOfBirth→date_of_birth, populationDescriptors→population_descriptors; remove karyotypicSex and affected; add egg_parent and sperm_parent - ExternalIdentifier: new concept linking individuals to external systems - Relationship: replace single `relation` with biological_relationship and social_relationship (both 0..*); add twin_group, consanguinity, consanguinity_note - Pedigree: rename indexPatients→index_patients - Add proto3 schema under src/main/proto/ga4gh/pedigree/v1/ modeled on phenopacket-schema namespace conventions (base, individual, relationship, pedigree protos) - Add schema.rst documentation page; update examples and using-the-model docs throughout; update README with v1 change summary Co-Authored-By: Claude Sonnet 4.6 <noreply@anthropic.com>
RTD now requires an explicit .readthedocs.yaml at the repo root. Adds docs/requirements.txt with sphinx and sphinx-rtd-theme pins. Bumps conf.py version from 0.1 to 1.0 to match schema v1. Co-Authored-By: Claude Sonnet 4.6 <noreply@anthropic.com>
- using-the-pedigree-model.rst: replace link to old third-party proto with reference to the new canonical GA4GH Pedigree v1 proto schema - acknowledgements.rst: fix typo "Phenotpic" → "Phenotypic" Co-Authored-By: Claude Sonnet 4.6 <noreply@anthropic.com>
Explains how KIN biological and social subsets map to the biological_relationship and social_relationship fields; documents preferred downward direction for asymmetric terms with a reference table; notes that inverse terms exist for convenience and should not be double-asserted; adds YAML usage examples. Co-Authored-By: Claude Sonnet 4.6 <noreply@anthropic.com>
…n priority - New 'Tree-based vs. Relationship-based Fields' section explicitly defines egg_parent/sperm_parent as tree-based and biological_relationship/ social_relationship as relationship-based, with preference rules: prefer tree-based, use relationship-based as supplement or alternative, consistency required with tree-based taking precedence - Direction of Relationships updated with three-tier priority: 1. Proband-ascending (highest), 2. Downward/ancestor, 3. Consistent - kin.rst direction note updated to reference the priority and explicitly call out the proband-ascending use case for inverse terms Co-Authored-By: Claude Sonnet 4.6 <noreply@anthropic.com>
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Summary
Proposes the v1 Pedigree schema, updating the conceptual model from v0.1 and adding a formal proto3 schema modeled on phenopacket-schema conventions.
Individual changes
sex→sex_assigned_at_birth(now optional; categorical values added)gender→gender_identity(categorical values added)dateOfBirth→date_of_birth,populationDescriptors→population_descriptors(snake_case)karyotypicSexremoved (to be represented in linked genotypic data)affectedremoved (to be represented in linked phenotypic data)egg_parentandsperm_parentadded as shorthand for gamete-provider parent linksExternalIdentifier (new)
external_id,external_id_system,external_system_endpointRelationship changes
relationfield replaced bybiological_relationship(0..) andsocial_relationship(0..) for independent multi-valued representationtwin_groupadded (monozygotic / dizygotic)consanguinity(bool) andconsanguinity_note(free text) addedPedigree changes
indexPatients→index_patients(snake_case)Proto schema (new)
src/main/proto/ga4gh/pedigree/v1/— four proto3 files:base.proto— OntologyClass, TimeElement, Age, AgeRange, GestationalAgeindividual.proto— Individual, ExternalIdentifier, SexAssignedAtBirth enum, GenderIdentity enumrelationship.proto— Relationship, TwinType enumpedigree.proto— Pedigree, PedigreeStatus enumorg.ga4gh.pedigree.v1, mirroring phenopacket-schema conventionsDocs
pedigree-model.rst— updated field tables with all v1 changesexamples.rst— all YAML examples updated to v1 field names; added consanguinity exampleusing-the-pedigree-model.rst— updated relationship direction section; new Biological vs. Social and Consanguinity subsectionsschema.rst— new page documenting the proto schema and how to compile itREADME.md— updated with v1 change summary and proto schema linkTest plan
pedigree-model.rstagainst the v1 spec CSVprotocto confirm no syntax errorsoptionalvsrepeatedchoicesegg_parent_id/sperm_parent_idconsistency note is accurateExternalIdentifierembedding approach (embedded in Individual vs. separate collection)🤖 Generated with Claude Code
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