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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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Detalhes bibliográficos
Publicado no:Hum Genomics
Main Authors: Jamuar, Saumya Shekhar, Tan, Ene-Choo
Formato: Artigo
Idioma:Inglês
Publicado em: BioMed Central 2015
Assuntos:
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC4482154/
https://ncbi.nlm.nih.gov/pubmed/26076878
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1186/s40246-015-0031-5
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