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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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Bibliografische gegevens
Gepubliceerd in:Hum Genomics
Hoofdauteurs: Jamuar, Saumya Shekhar, Tan, Ene-Choo
Formaat: Artigo
Taal:Inglês
Gepubliceerd in: BioMed Central 2015
Onderwerpen:
Online toegang: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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