Next-generation sequencing using a pre-designed gene panel for the molecular diagnosis of congenital disorders in pediatric patients

BACKGROUND: Next-generation sequencing (NGS) has revolutionized genetic research and offers enormous potential for clinical application. Sequencing the exome has the advantage of casting the net wide for all known coding regions while targeted gene panel sequencing provides enhanced sequencing depth...

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Detalles Bibliográficos
Autores principales: Lim, Eileen C. P., Brett, Maggie, Lai, Angeline H. M., Lee, Siew-Peng, Tan, Ee-Shien, Jamuar, Saumya S., Ng, Ivy S. L., Tan, Ene-Choo
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2015
Materias:
Primary Research
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4678573/
https://www.ncbi.nlm.nih.gov/pubmed/26666243
http://dx.doi.org/10.1186/s40246-015-0055-x

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4678573/
https://www.ncbi.nlm.nih.gov/pubmed/26666243
http://dx.doi.org/10.1186/s40246-015-0055-x

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