Targeted next-generation sequencing as a comprehensive test for Mendelian diseases: a cohort diagnostic study-Reference-Cited by-同舟云学术

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

Published:2018-08-03 Issue:1 Volume:8 Page:
ISSN:2045-2322
Container-title:Scientific Reports
language:en
Short-container-title:Sci Rep

Author:

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^ORCID,Shen Yin,Wei Xiaoming

Funder

National Natural Science Foundation of China (National Science Foundation of China)

Publisher

Springer Science and Business Media LLC

Subject

Multidisciplinary

Link

http://www.nature.com/articles/s41598-018-30151-z.pdf

Reference34 articles.

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2. Boycott, K. M., Vanstone, M. R., Bulman, D. E. & MacKenzie, A. E. Rare-disease genetics in the era of next-generation sequencing: discovery to translation. Nat Rev Genet 14, 681–691, https://doi.org/10.1038/nrg3555nrg3555 (2013).

3. Wei, X. et al. Next-generation sequencing identifies a novel compound heterozygous mutation in MYO7A in a Chinese patient with Usher Syndrome 1B. Clin Chim Acta 413, 1866–1871, https://doi.org/10.1016/j.cca.2012.07.022S0009-8981(12)00383-X (2012).

4. Sun, Y. et al. Analysis of a Chinese pedigree with Zellweger syndrome reveals a novel PEX1 mutation by next-generation sequencing. Clin Chim Acta 417, 57–61, https://doi.org/10.1016/j.cca.2012.12.005S0009-8981(12)00575-X (2013).

5. Neveling, K. et al. A post-hoc comparison of the utility of sanger sequencing and exome sequencing for the diagnosis of heterogeneous diseases. Hum Mutat 34, 1721–1726, https://doi.org/10.1002/humu.22450 (2013).

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