Cargando…
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...
Autores principales: | Jamuar, Saumya Shekhar, Tan, Ene-Choo |
---|---|
Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
BioMed Central
2015
|
Materias: | |
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 |
Ejemplares similares
-
Next-generation sequencing using a pre-designed gene panel for the molecular diagnosis of congenital disorders in pediatric patients
por: Lim, Eileen C. P., et al.
Publicado: (2015) -
Therapeutics in paediatric genetic diseases: current and future landscape
por: Koh, Ai Ling, et al.
Publicado: (2023) -
Targeted Next-Generation Sequencing for Clinical Diagnosis of 561 Mendelian Diseases
por: Liu, Yanqiu, et al.
Publicado: (2015) -
The spectrum of genetic variants and phenotypic features of Southeast Asian patients with Noonan syndrome
por: Koh, Ai‐Ling, et al.
Publicado: (2019) -
Correction: Targeted Next-Generation Sequencing for Clinical Diagnosis of 561 Mendelian Diseases
por: Liu, Yanqiu, et al.
Publicado: (2015)