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Rapid genome sequencing for pediatrics

The advancements made in next‐generation sequencing (NGS) technology over the past two decades have transformed our understanding of genetic variation in humans and had a profound impact on our ability to diagnose patients with rare genetic diseases. In this review, we discuss the recently developed...

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Detalles Bibliográficos
Autores principales: Jezkova, Jana, Shaw, Sophie, Taverner, Nicola V., Williams, Hywel J.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: John Wiley and Sons Inc. 2022
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9826377/
https://www.ncbi.nlm.nih.gov/pubmed/36086948
http://dx.doi.org/10.1002/humu.24466