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...

Täydet tiedot

Tallennettuna:
Bibliografiset tiedot
Julkaisussa:Sci Rep
Päätekijät: 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
Aineistotyyppi: Artigo
Kieli:Inglês
Julkaistu: Nature Publishing Group UK 2018
Aiheet:
Article
Linkit: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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