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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Detalhes bibliográficos
Publicado no:Hum Genomics
Main Authors: 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: Artigo
Idioma:Inglês
Publicado em: BioMed Central 2015
Assuntos:
Primary Research
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC4678573/
https://ncbi.nlm.nih.gov/pubmed/26666243
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1186/s40246-015-0055-x
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