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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...
Autores principales: | Jezkova, Jana, Shaw, Sophie, Taverner, Nicola V., Williams, Hywel J. |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
John Wiley and Sons Inc.
2022
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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 |
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