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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...

Ausführliche Beschreibung

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Bibliographische Detailangaben
Veröffentlicht in:Hum Genomics
Hauptverfasser: Jamuar, Saumya Shekhar, Tan, Ene-Choo
Format: Artigo
Sprache:Inglês
Veröffentlicht: BioMed Central 2015
Schlagworte:
Online Zugang: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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