Validation of targeted next-generation sequencing panels in a cohort of Polish patients with epilepsy: assessing variable performance across clinical endophenotypes and uncovering novel genetic variants

Validation of targeted next-generation sequencing panels in a cohort of Polish patients with epilepsy: assessing variable performance across clinical endophenotypes and uncovering novel genetic variants

IntroductionTargeted Next-Generation Sequencing Panels (TNGSP) have become a standard in global clinical practice. Instead of questioning the necessity of next-generation sequencing in epilepsy patients, contemporary large-scale research focuses on factors such as the size of TNGSP, the comparative...

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Bibliographic Details
Main Authors: Magdalena Badura-Stronka, Katarzyna Wołyńska, Anna Winczewska-Wiktor, Justyna Marcinkowska, Dagmara Karolewska, Danuta Tomkowiak-Kędzia, Michał Piechota, Marta Przyborska, Natalia Kochalska, Barbara Steinborn
Format: Article
Language:English
Published: Frontiers Media S.A. 2024-01-01
Series:Frontiers in Neurology
Subjects:
next-generation sequencing
ILAE
epilepsy
genetics
yield
panels
Online Access:https://www.frontiersin.org/articles/10.3389/fneur.2023.1316933/full

Internet

https://www.frontiersin.org/articles/10.3389/fneur.2023.1316933/full

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