CNAG-Biomedical-Informatics / convert-phenoLinks
A software toolkit for the interconversion of standard data models for phenotypic data
☆15Updated 2 weeks ago
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 last month
- 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
- R package for easy access, manipulation, and analysis of the Monarch Initiative or other KGX-formatted knowledge graphs.☆16Updated last week
- phenol: Phenotype ontology library☆25Updated this week
- An app and library for building, conversion, and validation of GA4GH Phenopackets.☆16Updated 5 months ago
- Associations of genomic features, drugs and diseases☆48Updated 3 years ago
- Workflow Execution Service Backend☆20Updated last week
- Repository for the GA4GH phenopacket schema☆91Updated this week
- The Unified Phenotype Ontology (uPheno) integrates multiple phenotype ontologies into a unified cross-species phenotype ontology.☆82Updated 2 weeks ago
- Code for classifying unstructured text to tissue ontology terms using natural language processing and machine learning.☆27Updated last year
- FAIR Genomes semantic metadata model. The core is a YAML file, which is transformed into all other desired output formats.☆13Updated last month
- Data Standards Hackathon for NGS based typing.☆14Updated 2 months ago
- An Open Platform for Harmonisation & Analysis of Sequencing & Phenotype Data☆33Updated 3 years ago
- MuSiCa - Mutational Signatures in Cancer☆23Updated last year
- Unified repository for the GA4GH Beacon v2 API standard☆32Updated last week
- BioThings API framework - Making high-performance API for biological annotation data☆48Updated 3 weeks ago
- Class materials for the NIH HPC snakemake class☆15Updated last year
- Beacon v2 Reference Implementation (API)☆18Updated 11 months ago
- A collection of Python clients and accessory scripts for interacting with the Cromwell☆22Updated 3 years ago
- Modular blocks to build Snakemake workflows for reproducible NGS analyses☆22Updated 6 years ago
- Standard for describing and searching biomedical data developed by the Global Alliance for Genomics & Health.☆24Updated 2 years ago
- A python tool for parsing pedigree files☆16Updated 8 years ago
- An open-source, cloud-ready web application for simplified deployment of big data workflows.☆35Updated 6 months ago
- A web application from the Raphael Lab for mutation annotation and genome interpretation.☆20Updated 7 years ago
- API for linked biological knowledge☆66Updated 3 years ago
- Collections of GA4GH phenopackets that represent individuals with Mendelian diseases.☆30Updated this week
- Repo for advertising and organizing CIViC unconference/meeting activities☆10Updated 4 months ago
- Rna-seq pipeline, From FASTQ to differential expression analysis...☆20Updated 8 years ago
- LIkelihood Ratio Interpretation of Clinical AbnormaLities☆31Updated 2 weeks ago