Confirmation of Exome Sequencing Results Using Sanger Sequencing—Considerations in a Low‐Resource Setting

ABSTRACT Background Exome sequencing (ES) is now widely accepted as an appropriate first‐tier diagnostic test for developmental disorders (DD). International guidelines recommend that in diagnostic settings, ES findings be validated with an orthogonal method, such as Sanger sequencing, before report...

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Detalles Bibliográficos

Principais autores:	Nadja Louw, Samantha Schnell, Mhlekazi Molatoli, Ingrid Smit, Robyn Kerr, Koen Devriendt, Aimé Lumaka, Amanda Krause, Nadia Carstens, Zané Lombard, for DDD‐Africa as members of the H3Africa Consortium
Formato:	Artigo
Idioma:	Inglês
Publicado:	Wiley 2026-05-01
Series:	Molecular Genetics & Genomic Medicine
Assuntos:	exome sequencing genomic medicine NGS quality metrics resource‐limited settings sanger sequencing variant confirmation
Acceso en liña:	https://doi.org/10.1002/mgg3.70224
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