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 signific...

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Detalhes bibliográficos

Principais autores:	Isabelle B. Cooperstein, Shruti Marwaha, Alistair Ward, Shilpa N. Kobren, Jennefer N. Carter, Undiagnosed Diseases Network, Matthew T. Wheeler, Gabor T. Marth
Formato:	Artigo
Idioma:	Inglês
Publicado em:	BMC 2025-10-01
Colecção:	Genome Medicine
Assuntos:	Rare disease Variant prioritization Diagnosis Exomiser Genomiser Parameter optimization
Acesso em linha:	https://doi.org/10.1186/s13073-025-01546-1
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