phenopackets-v2

There are 0 repository under phenopackets-v2 topic.

CNAG-Biomedical-Informatics / convert-pheno
A software toolkit for the interconversion of standard data models for phenotypic data
cdisc phenopacket redcap omop-cdm beacon-v2 convert bff pxf beacon ehr ehr-data ehr-phenotyping biomedical-informatics cdisc-odm cnag health-data phenopackets-v2 convert-pheno omop csv
Language:Perl 15
CNAG-Biomedical-Informatics / pheno-ranker
Pheno-Ranker is a tool for comparing phenotypic data structured in JSON/YAML format, such as Beacon v2 Models or Phenopackets v2, as well as CSV.
beacon-v2 bff csv data-exploration json pxf phenopackets-v2 semantic-similarity semantic-similarity-measures ga4gh qrcode vcf yaml bioinformatics ehr genomics health-data cnag biomedical-informatics
Language:Perl 7
BIH-CEI / rarelink
RareLink - A REDCap-based framework linking international registries to FHIR and Phenopackets
fhir interoperability phenopackets-v2 rarediseases redcap
Language:HTML 6
BIH-CEI / ERKER2Phenopackets
A pipeline of ERKER data into the phenopackets data structure.
phenopackets-v2 pipeline rare-diseases
Language:Python 4
CNAG-Biomedical-Informatics / beacon2-cbi-tools
Beacon v2 - CNAG Biomedical Informatics - Tools (Data ingestion tools)
beacon beacon-friendly-format beacon-v2 bff json mongodb phenopackets-v2 pxf vcf beacon2-ri-tools beacon2-reference-implementation beacon2-ri cnag data-exchange browser bff-portal 23andme microarray snp
Language:Perl 3
CNAG-Biomedical-Informatics / pheno-ranker-ui
The web ui (R-Shiny application) for Pheno-Ranker, a tool designed for performing semantic similarity analysis on phenotypic data structured in JSON format, such as Beacon v2 Models or Phenopackets v2
beacon-v2 data-exploration json phenopackets-v2 semantic-similarity semantic-similarity-measures r shiny clinical-data
Language:R 2
mrueda / pheno-lens
Visualize and Perform Data Analytics on Phenotypic and Clinical Data Stored in GA4GH Standards and Beyond
beacon-v2 clinical-data elasticsearch kibana kibana-visualization natural-language-processing phenopackets-v2 phenotype phenotypic-data beacon2-ri-tools pheno-lens pheno-ranker pheno-search
1
mrueda / pheno-search
Streamlined Searching in GA4GH-Standard Phenotypic and Clinical Data Repositories and Beyond
beacon-v2 elasticsearch phenopackets-v2 phenotype search clinical-data json beacon2-ri-tools pheno-lens pheno-search convert-pheno
Language:Python 1