Article

Episignatures in practice: independent evaluation of published episignatures for the molecular diagnostics of ten neurodevelopmental disorders

2023-05-24

Abstract excerpt

<title>Abstract</title> <p>Variants of uncertain significance (VUS) are a significant issue for the molecular diagnosis of rare diseases. The publication of episignatures as effective biomarkers of certain Mendelian neurodevelopmental disorders has raised hopes to help classify VUS. However, prediction abilities of most published episignatures have not been independently investigated yet, which is a prerequisite...

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Literature Corpus work: 1ccd0872-81a0-5cdd-bebb-ba92673b35f6
DOI: 10.21203/rs.3.rs-2924104/v1

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