Optimized trio genome sequencing (OTGS) as a first-tier genetic test in critically ill infants: practice in China-Reference-Cited by-同舟云学术

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Optimized trio genome sequencing (OTGS) as a first-tier genetic test in critically ill infants: practice in China

Published:2020-01-21 Issue:4 Volume:139 Page:473-482
ISSN:0340-6717
Container-title:Human Genetics
language:en
Short-container-title:Hum Genet

Author:

Wang Huijun,Lu Yulan,Dong Xinran,Lu Guoping,Cheng Guoqiang,Qian Yanyan,Ni Qi,Zhang Ping,Yang Lin,Wu Bingbing,Zhou Wenhao^ORCID

Funder

the Ministry of science and technology national key research and development program

Shen Kang Hospital Development Center Clinical Science and technology innovation project of Shanghai

the project of Shanghai Key Laboratory of Birth Defects

Shanghai health and family planning commission

Publisher

Springer Science and Business Media LLC

Subject

Genetics(clinical),Genetics

Link

http://link.springer.com/content/pdf/10.1007/s00439-019-02103-8.pdf

Reference26 articles.

1. Alfares A, Aloraini T, Subaie LA, Alissa A, Qudsi AA, Alahmad A, Mutairi FA, Alswaid A, Alothaim A, Eyaid W, Albalwi M, Alturki S, Alfadhel M (2018) Whole-genome sequencing offers additional but limited clinical utility compared with reanalysis of whole-exome sequencing. Genet Med 20:1328–1333. https://doi.org/10.1038/gim.2018.41

2. Anderson S, Koniaris S, Xin B, Brooks SS (2017) Congenital glucose-galactose malabsorption: a case report. J Pediatr Health Care 31:506–510. https://doi.org/10.1016/j.pedhc.2017.01.005

3. Farnaes L, Hildreth A, Sweeney NM, Clark MM, Chowdhury S, Nahas S, Cakici JA, Benson W, Kaplan RH, Kronick R, Bainbridge MN, Friedman J, Gold JJ, Ding Y, Veeraraghavan N, Dimmock D, Kingsmore SF (2018) Rapid whole-genome sequencing decreases infant morbidity and cost of hospitalization. NPJ Genom Med 3:10. https://doi.org/10.1038/s41525-018-0049-4

4. French CE, Delon I, Dolling H, Sanchis-Juan A, Shamardina O, Megy K, Abbs S, Austin T, Bowdin S, Branco RG, Firth H, Disease NB-R, Next Generation Children P, Rowitch DH, Raymond FL (2019) Whole genome sequencing reveals that genetic conditions are frequent in intensively ill children. Intensive Care Med 45:627–636. https://doi.org/10.1007/s00134-019-05552-x

5. Gross AM, Ajay SS, Rajan V, Brown C, Bluske K, Burns NJ, Chawla A, Coffey AJ, Malhotra A, Scocchia A, Thorpe E, Dzidic N, Hovanes K, Sahoo T, Dolzhenko E, Lajoie B, Khouzam A, Chowdhury S, Belmont J, Roller E, Ivakhno S, Tanner S, McEachern J, Hambuch T, Eberle M, Hagelstrom RT, Bentley DR, Perry DL, Taft RJ (2019) Copy-number variants in clinical genome sequencing: deployment and interpretation for rare and undiagnosed disease. Genet Med 21:1121–1130. https://doi.org/10.1038/s41436-018-0295-y

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