A curated collection of the key tools, standards, guidelines, and organizations referenced throughout this course.
Foundational references
- AHRQ Registries for Evaluating Patient Outcomes: A User's Guide (4th Ed.), The definitive registry reference; free online
- FDA Guidance: Natural History Studies for Drug Development
- Book of OHDSI, Free comprehensive textbook on OMOP and observational research
Governance & IRB
- OHRP Human Subjects Regulations (45 CFR 46)
- NIH Broad Consent Template
- WCG (Western IRB)
- Advarra IRB
- GA4GH Framework for Responsible Sharing
Data standards & vocabularies
- NIH Common Data Element Repository
- NINDS Common Data Elements
- PROMIS Health Measures
- PhenX Toolkit
- Human Phenotype Ontology (HPO)
- SNOMED CT Browser
- LOINC Search
- RxNorm Browser
- Orphanet (ORDO)
- NCBO BioPortal
- NLM UMLS
FHIR & interoperability
- HL7 FHIR R4 Specification
- SMART on FHIR
- ONC 21st Century Cures Act Rule
- FHIR Bulk Data Access
- Inferno FHIR Testing Tool
- SMART App Launch Sandbox
OMOP & OHDSI
GA4GH & Phenopackets
Platforms
Participant engagement & advocacy
Data sharing
- NIH Data Sharing Policy
- dbGaP
- EGA (European Genome-phenome Archive)
- Synapse (Sage Bionetworks)
- FAIR Principles
- Zenodo
Publications & reporting
- STROBE Statement
- RECORD Statement
- EQUATOR Network
- ICMJE Authorship Guidelines
- NIH Public Access Policy
- Orphanet Journal of Rare Diseases