Clinical application of next-generation sequencing for Mendelian diseases

Over the past decade, next-generation sequencing (NGS) has led to an exponential increase in our understanding of the genetic basis of Mendelian diseases. NGS allows for the analysis of multiple regions of the genome in one single reaction and has been shown to be a cost-effective and efficient tool...

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Detalles Bibliográficos
Autores principales: Jamuar, Saumya Shekhar, Tan, Ene-Choo
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2015
Materias:
Review
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4482154/
https://www.ncbi.nlm.nih.gov/pubmed/26076878
http://dx.doi.org/10.1186/s40246-015-0031-5

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4482154/
https://www.ncbi.nlm.nih.gov/pubmed/26076878
http://dx.doi.org/10.1186/s40246-015-0031-5

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