An optimized variant prioritization process for rare disease diagnostics: recommendations for Exomiser and Genomiser.

ABSTRACT:

Background

Exome sequencing (ES) and genome sequencing (GS) are increasingly used as standard genetic tests to identify diagnostic variants in rare disease cases. However, prioritizing these variants to reduce the time and burden of manual interpretation by clinical teams remains a significant challenge. The Exomiser/Genomiser software suite is the most widely adopted open-source software for prioritizing coding and noncoding variants. Despite its ubiquitous use, limited data-driven guidelines currently exist to optimize its performance for diagnostic variant prioritization. Based on detailed analyses of Undiagnosed Diseases Network (UDN) probands, this study presents optimized parameters and practical recommendations for deploying the Exomiser and Genomiser tools. We also highligh

SUBMITTER: Cooperstein IB 

PROVIDER: S-EPMC12539062 | biostudies-literature | 2025 Oct

REPOSITORIES: biostudies-literature