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A holistic approach to maximise diagnostic output in trio exome sequencing

INTRODUCTION: Rare genetic diseases are a major cause for severe illness in children. Whole exome sequencing (WES) is a powerful tool for identifying genetic causes of rare diseases. For a better and faster assessment of the vast number of variants that are identified in the index patient in WES, pa...

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Detalles Bibliográficos
Autores principales:	von Hardenberg, Sandra, Wallaschek, Hannah, Du, Chen, Schmidt, Gunnar, Auber, Bernd
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	Frontiers Media S.A. 2023
Materias:	Pediatrics
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10238563/ https://www.ncbi.nlm.nih.gov/pubmed/37274821 http://dx.doi.org/10.3389/fped.2023.1183891

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