Article

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

2025-04-20

Abstract excerpt

<h4>Purpose</h4> Whole-exome sequencing (WES) and whole-genome sequencing (WGS) are increasingly used as standard genetic tests to identify the 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 f...

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Literature Corpus work: 2552d1be-9e96-5e20-a7bb-339b882d8b80
DOI: 10.1101/2025.04.18.25326061

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