Prevalence of Rare Genetic Variations and Their Implications in NGS-data Interpretation-Reference-Cited by-同舟云学术

Prevalence of Rare Genetic Variations and Their Implications in NGS-data Interpretation

Published:2017-08-29 Issue:1 Volume:7 Page:
ISSN:2045-2322
Container-title:Scientific Reports
language:en
Short-container-title:Sci Rep

Author:

Cho Yangrae,Lee Chul-Ho,Jeong Eun-Goo,Kim Min-Ho,Hong Jong Hui,Ko Younhee,Lee Bomnun,Yun Gilly,Kim Byong Joon,Jung Jongcheol,Jung Jongsun,Lee Jin-Sung

Publisher

Springer Science and Business Media LLC

Subject

Multidisciplinary

Link

http://www.nature.com/articles/s41598-017-09247-5.pdf

Reference45 articles.

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2. Bhattacharjee, A. et al. Development of DNA confirmatory and high-risk diagnostic testing for newborns using targeted next-generation DNA sequencing. Genetics in medicine: official journal of the American College of Medical Genetics 17, 337–347, doi: 10.1038/gim.2014.117 (2015).

3. Al-Mousa, H. et al. Unbiased targeted next-generation sequencing molecular approach for primary immunodeficiency diseases. The Journal of allergy and clinical immunology 137, 1780–1787, doi: 10.1016/j.jaci.2015.12.1310 (2016).

4. Dong, Y. et al. Targeted next-generation sequencing identification of mutations in patients with disorders of sex development. BMC medical genetics 17, 23, doi: 10.1186/s12881-016-0286-2 (2016).

5. Lee, H. et al. Clinical exome sequencing for genetic identification of rare Mendelian disorders. Jama 312, 1880–1887, doi: 10.1001/jama.2014.14604 (2014).

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