CNAG-Biomedical-Informatics / convert-phenoLinks
A software toolkit for the interconversion of standard data models for phenotypic data
☆15Updated last month
Alternatives and similar repositories for convert-pheno
Users that are interested in convert-pheno are comparing it to the libraries listed below
Sorting:
- Python Phenopacket Tools☆15Updated 2 months ago
- Repository for development of the genomic module of the CDM.☆23Updated 6 years ago
- A pipeline that takes clinical notes from EHRs and generate phenotype terms, then generate ranked gene list☆37Updated 2 years ago
- Unified repository for the GA4GH Beacon v2 API standard☆32Updated last week
- Repository for the GA4GH phenopacket schema☆90Updated last month
- An app and library for building, conversion, and validation of GA4GH Phenopackets.☆16Updated 4 months ago
- R package for easy access, manipulation, and analysis of the Monarch Initiative or other KGX-formatted knowledge graphs.☆16Updated 2 months ago
- Associations of genomic features, drugs and diseases☆48Updated 2 years ago
- Beacon v2 Reference Implementation (API)☆18Updated 10 months ago
- WDL plugin for pytest☆48Updated 2 years ago
- Code for classifying unstructured text to tissue ontology terms using natural language processing and machine learning.☆26Updated last year
- An Open Platform for Harmonisation & Analysis of Sequencing & Phenotype Data☆33Updated 3 years ago
- Repo for advertising and organizing CIViC unconference/meeting activities☆10Updated 3 months ago
- Data Standards Hackathon for NGS based typing.☆14Updated last month
- phenol: Phenotype ontology library☆24Updated last week
- Map your disease and phenotype terms to the Open Targets platform ontology☆21Updated last week
- Collections of GA4GH phenopackets that represent individuals with Mendelian diseases.☆28Updated last week
- FAIR Genomes semantic metadata model. The core is a YAML file, which is transformed into all other desired output formats.☆13Updated this week
- A python tool for parsing pedigree files☆16Updated 8 years ago
- Class materials for the NIH HPC snakemake class☆15Updated last year
- Consensus assembly and variant calling workflow.☆12Updated 10 years ago
- BioThings API framework - Making high-performance API for biological annotation data☆48Updated last week
- A collection of Python clients and accessory scripts for interacting with the Cromwell☆22Updated 2 years ago
- MatchMiner: An open source computational platform for matching genomic profiles to precision cancer medicine clinical trials☆46Updated 3 years ago
- LIkelihood Ratio Interpretation of Clinical AbnormaLities☆29Updated 4 months ago
- hail-based pipelines for annotating variant callsets and exporting them to elasticsearch☆23Updated this week
- GA4GH Variation Representation Python Implementation☆60Updated 2 weeks ago
- Workflow Execution Service Backend☆20Updated last week
- ☆26Updated 4 years ago
- GWAS Catalog Ontology and Curation Infrastructure☆26Updated last month