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

Genome medicine - 21 Oct 2025

Cooperstein Isabelle B, Marwaha Shruti, Ward Alistair, Kobren Shilpa N, Carter Jennefer N, Wheeler Matthew T, Marth Gabor T

Abstract excerpt

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...

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PMID: 41121346
DOI: 10.1186/s13073-025-01546-1
PMCID: PMC12539062

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