ga4gh / pedigreeLinks
Repository for the family history/pedigree project
☆13Updated 2 years ago
Alternatives and similar repositories for pedigree
Users that are interested in pedigree are comparing it to the libraries listed below
Sorting:
- Repository for the GA4GH phenopacket schema☆88Updated 10 months ago
- Python Phenopacket Tools☆15Updated last week
- An app and library for building, conversion, and validation of GA4GH Phenopackets.☆16Updated last month
- Collections of GA4GH phenopackets that represent individuals with Mendelian diseases.☆23Updated this week
- ☆26Updated 6 years ago
- A repository for the schemas used for the Data Repository Service.☆61Updated last week
- Internationalisation of the HPO content☆19Updated 2 years ago
- GA4GH Beacon specification.☆32Updated 2 years ago
- Ontology for consent codes and data use requirements☆67Updated 2 years ago
- Monarch web application and API☆42Updated 5 years ago
- 🔥 FHIR 101 - A Practical Guide☆42Updated 4 years ago
- The Unified Phenotype Ontology (uPheno) integrates multiple phenotype ontologies into a unified cross-species phenotype ontology.☆79Updated last week
- GA4GH Variation Representation Python Implementation☆58Updated last week
- Ontology Based Profile Matching☆17Updated 3 years ago
- Repository for development of the genomic module of the CDM.☆22Updated 6 years ago
- Unified repository for the GA4GH Beacon v2 API standard☆31Updated last week
- Data dictionary for the GDC☆54Updated last week
- A pipeline that takes clinical notes from EHRs and generate phenotype terms, then generate ranked gene list☆37Updated 2 years ago
- Pedigree drawing with ease☆24Updated 3 years ago
- Extensible specification for representing and uniquely identifying biological sequence variation☆92Updated last week
- Associations of genomic features, drugs and diseases☆48Updated 2 years ago
- vcf2fhir: a utility to convert VCF files into HL7 FHIR format for genomics-EHR integration☆40Updated 11 months ago
- Collect of SO Ontologies☆100Updated last week
- Data Ingestion Pipeline for Monarch☆57Updated 2 years ago
- Human Phenotype Ontology Workbench☆20Updated last year
- The open-source version of PhenoTips is no longer maintained. PhenoTips makes it simple to record clinical findings observed in patients …☆102Updated 3 years ago
- An information model for representing variant annotations.☆21Updated last week
- Feature Annotation Location Description Ontology☆34Updated 5 years ago
- Data Standards Hackathon for NGS based typing.☆14Updated 5 months ago
- A Tool to Annotate and Prioritize Exome Variants☆222Updated 3 weeks ago