Clinical and data-driven optimization of Genomiser for rare disease patients: experience from the Hong Kong Genome Project.

ABSTRACT: Genomiser is a phenotype-driven tool that prioritizes coding and non-coding variants by relevance in rare disease diagnosis; yet comprehensive evaluation of its performance on real-life whole genome sequencing data is lacking. The Hong Kong Genome Project had initially incorporated Exomiser in the diagnostic pipeline. This study evaluated the feasibility of upgrading from Exomiser to Genomiser with three modifications: extension of the interval filter to include ±2000 bp from transcript boundaries, adjusting minor allele frequency (MAF) filter to 3%, and the inclusion of SpliceAI. A total of 985 patients with disclosed whole genome sequencing test results were included in this study, of which 207 positive cases (14 attributed to non-coding variants) were used for Genomiser parameter optimi

SUBMITTER: Xi AMC 

PROVIDER: S-EPMC12452281 | biostudies-literature | 2025 Aug

REPOSITORIES: biostudies-literature