Applications

Phenoboard is designed to help rapidly and accurately curate case and cohort reports about Mendelian disease from the medical literature. A growing number of software packages is available for analyzing cohorts of phenopackets, some of which we describe here.

• Genotype Phenotype Correlation Analysis
• Validation of bioinformatics software
• Clustering. Software is in development to cluster (stratify) cohorts of phenopackets
• Feature-Feature correlation analysis
• Oncopacket: Integration of cancer research data using GA4GH phenopackets
• Phenopacket-tools: Java library and application for building and validating GA4GH phenopackets
• Converting OMOP CDM to phenopackets: A pipeline to transform data from OMOP to Phenopackets
• phenopacket2prompt: A Java tool to create LLM prompts from phenopackets (can be used to test performance of LLMs at genomic differential diagnostic support.)
• RareLink: A scalable REDCap-based framework for rare disease data interoperability (integrates phenopackets, FHIR, and RedCap)