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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...

Celý popis

Uloženo v:
Hlavní autoři: Isabelle B. Cooperstein, Shruti Marwaha, Alistair Ward, Shilpa N. Kobren, Jennefer N. Carter, Undiagnosed Diseases Network, Matthew T. Wheeler, Gabor T. Marth
Médium: Artigo
Jazyk:Inglês
Vydáno: BMC 2025-10-01
Edice:Genome Medicine
Témata:
Rare disease
Variant prioritization
Diagnosis
Exomiser
Genomiser
Parameter optimization
On-line přístup:https://doi.org/10.1186/s13073-025-01546-1
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