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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...

Disgrifiad llawn

Wedi'i Gadw mewn:
Manylion Llyfryddiaeth
Cyhoeddwyd yn:Hum Genomics
Prif Awduron: Jamuar, Saumya Shekhar, Tan, Ene-Choo
Fformat: Artigo
Iaith:Inglês
Cyhoeddwyd: BioMed Central 2015
Pynciau:
Mynediad Ar-lein: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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