Optimizing Variant Prioritization in Rare Diseases

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This research focuses on optimising diagnostic procedures for rare diseases by employing Exomiser and Genomiser tools, leveraging data from 386 UDN probands with ES and GS datasets. It evaluates prioritisation parameters, variant identification criteria, and phenotype algorithm inputs to enhance coding and noncoding variant detection. Observed patterns reveal the significance of gene-phenotype restrictions and pathogenicity tools, leading to proposed practical filtering strategies and HPO...