Cornelia Blank, Katharina Gatterer, Marie Overbye, Wolfgang Schobersberger, Bernhard Streicher, Andrea Petróczi
GRADE IT-A Literacy-Based Assessment Tool for Generating Research-Based Assessment Data to Evidence the ImpacT of Anti-doping Education via Athletes' Capability to Make the Right Decision
Frontiers in sports and active living
study aims promote interoperability precision medicine translational research aligning observational medical outcomes partnership omop phenopackets data models phenopackets expert knowledgedriven schema designed facilitate storage exchange multimodal patient data support downstream analysis first goal paper explore model alignment characterizing common data models using newly developed data transformation process evaluation method second using omop normalized clinical data evaluate mapping realworld patient data phenopackets evaluate suitability phenopackets patient data representation realworld clinical cases identified mappings omop phenopackets applied real patient dataset assess transformations success analyzed gaps models identified key considerations transforming data improve ambiguous alignment incorporated unified medical language system umls semantic typebased filtering direct individual concepts appropriate domain conducted domainexpert evaluation mappings clinical utility omop phenopacket transformation pipeline executed 1000 alzheimers disease patients successfully mapped required entities however due missing values omop required phenopacket attributes 102 records lost use umlssemantic type filtering ambiguous alignment individual concepts resulted 96 agreement clinical thinking increased 68 mapping exclusively domain correspondence study presents pipeline transform data omop phenopackets identified considerations transformation ensure data quality handling restrictions successful phenopacket validation discrepant data formats identified unmappable phenopacket attributes focus specialty use cases genomics oncology omop currently support introduce umls semantic type filtering resolve ambiguous alignment phenopacket entities appropriate realworld interpretation provide systematic approach align omop phenopackets schemas work facilitates future use phenopackets clinical applications addressing key barriers interoperability deriving phenopacket realworld patient data