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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Bibliografski detalji
Izdano u:Sci Rep
Glavni autori: 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
Format: Artigo
Jezik:Inglês
Izdano: Nature Publishing Group UK 2018
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Article
Online pristup: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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