A method for noninvasive detection of fetal large deletions/duplications by low coverage massively parallel sequencing

Author:

Chen Shengpei12,Lau Tze Kin3,Zhang Chunlei1,Xu Chenming4,Xu Zhengfeng5,Hu Ping5,Xu Jian6,Huang Hefeng5,Pan Ling6,Jiang Fuman1,Chen Fang17,Pan Xiaoyu18,Xie Weiwei1,Liu Ping1,Li Xuchao1,Zhang Lei1,Li Songgang1,Li Yingrui1,Xu Xun1,Wang Wei1,Wang Jun17910,Jiang Hui17,Zhang Xiuqing1

Affiliation:

1. BGI-Shenzhen; Shenzhen China

2. State Key Laboratory of Bioelectronics, School of Biological Science and Medical Engineering; Southeast University; Nanjing China

3. Fetal Medicine Centre; Paramount Clinic; Hong Kong

4. Key Laboratory of Reproductive Genetics; Zhejiang University, Ministry of Education; Hangzhou China

5. State Key Laboratory of Reproductive Medicine, Center of Prenatal Diagnosis; Nanjing Maternity and Child Health Care Hospital Affiliated to Nanjing Medical University; Nanjing China

6. Women's Hospital; Zhejiang University School of Medicine; Hangzhou China

7. Department of Biology; University of Copenhagen; Copenhagen Denmark

8. School of Bioscience and Bioengineering; South China University of Technology; Guangzhou China

9. King Abdulaziz University; Jeddah Saudi Arabia

10. The Novo Nordisk Foundation Center for Basic Metabolic Research; University of Copenhagen; Copenhagen Denmark

Publisher

Wiley

Subject

Genetics (clinical),Obstetrics and Gynecology

Reference27 articles.

1. Copy number variation: new insights in genome diversity;Freeman;Genome Res,2006

2. Copy-number variation and association studies of human disease;McCarroll;Nat Genet,2007

3. Copy number variants and genetic traits: closer to the resolution of phenotypic to genotypic variability;Beckmann;Nat Rev Genet,2007

4. 3 cases of partial deletion of the short arm of a 5 chromosome;Lejeune;C R Hebd Seances Acad Sci,1963

5. The DiGeorge anomaly as a developmental field defect;Lammer;Am J Med Genet,2005

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