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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Detalhes bibliográficos
Publicado no:Sci Rep
Main Authors: 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: Artigo
Idioma:Inglês
Publicado em: Nature Publishing Group UK 2018
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Article
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC6076228/
https://ncbi.nlm.nih.gov/pubmed/30076350
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1038/s41598-018-30151-z
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