Targeted next-generation sequencing as a comprehensive test for Mendelian diseases: a cohort diagnostic study

With the development of next generation sequencing, more and more common inherited diseases have been reported. However, accurate and convenient molecular diagnosis cannot be achieved easily because of the enormous size of disease causing mutations. In this study, we introduced a new single-step met...

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Detalles Bibliográficos
Autores principales: Sun, Yan, Man, Jianfen, Wan, Yang, Pan, Gao, Du, Lique, Li, Long, Yang, Yun, Qiu, Liru, Gao, Qing, Dan, Handong, Mao, Liangwei, Cheng, Zhengyu, Fan, Chen, Yu, Jing, Lin, Mufei, Kristiansen, Karsten, Shen, Yin, Wei, Xiaoming
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Nature Publishing Group UK 2018
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6076228/
https://www.ncbi.nlm.nih.gov/pubmed/30076350
http://dx.doi.org/10.1038/s41598-018-30151-z

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