Article

Quality assurance for next-generation sequencing diagnostics of rare neurological diseases in the European Reference Network

2024-02-08

Abstract excerpt

<title>Abstract</title> <p>In the past decade, next-generation sequencing (NGS) has revolutionized genetic diagnostics for rare neurological disorders (RND). However, the lack of standardized technical, interpretative, and reporting standards poses a challenge for ensuring consistent and high-quality diagnostics globally. To address this, the European Reference Network for Rare Neurological Diseases (ERN-RND) col...

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Literature Corpus work: 80f84dbc-2111-565d-b72a-ddc63b6ddcb9
DOI: 10.21203/rs.3.rs-3887919/v1

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