Project Searchlight Study Methodology: Real-World Evaluation and Validation of an Algorithm to Identify Persons at Risk of Gaucher Disease
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Presenting Author - Lisa Sniderman King, MSc, CGC; Co-Author - Mario Aguiar, MD; Co-Author - Alexandra Chiorean, MSc; Co-Author - Alexandra Dumitriu, PhD; Co-Author - Judy Hull, MS; Co-Author - Pramod Mistry, MBBS, PhD, MA, MD; Co-Author - François Modave, PhD; Co-Author - Martin Montmerle, MBA; Co-Author - Patrick Pavlick, BS; Co-Author - Neha Shah, PhD; Co-Author - Neal Weinreb, MD; Co-Author - Amanda Wilson, PhD;
Meta Tag
Bioinformatics
Clinical History
Databases
Delineation of Diseases
Genetic Testing
Lysosomal Diseases
Metabolic Disorder
Methodology
Natural History
Phenotype
Risk Assessment
Sequencing
Co-Author Mario Aguiar, MD
Co-Author Alexandra Chiorean, MSc
Co-Author Alexandra Dumitriu, PhD
Co-Author Judy Hull, MS
Co-Author Pramod Mistry, MBBS, PhD, MA, MD
Co-Author François Modave, PhD
Co-Author Martin Montmerle, MBA
Co-Author Patrick Pavlick, BS
Co-Author Neha Shah, PhD
Co-Author Neal Weinreb, MD
Co-Author Amanda Wilson, PhD
Presenting Author Lisa Sniderman King, MSc, CGC
Keywords
Project Searchlight study
rare disease algorithm
Gaucher disease
lysosomal storage disease
diagnostic testing
electronic health record
diagnostic yield
RDA scores
healthcare system characteristics
diagnostic delay

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