Fig. 1: Data filtering workflow for cases and Orphanet data. | European Journal of Human Genetics

Fig. 1: Data filtering workflow for cases and Orphanet data.

From: Phenotypic similarity-based approach for variant prioritization for unsolved rare disease: a preliminary methodological report

Fig. 1

A Filtering of cases from data freeze 1 cohort extraction, definition of the initial population by redefining solved and unsolved cases. Obtention of the final study population after exclusion of cases with no HPO annotation. B Filtering of clinical entities of Orphanet database for active clinical entities, preparation of the final reference data (ORPHAcodes).

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