Accurate diagnosis of spinal muscular atrophy and 22q11.2 deletion syndrome using limited deoxynucleotide triphosphates and high-resolution melting-Reference-Cited by-同舟云学术

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Accurate diagnosis of spinal muscular atrophy and 22q11.2 deletion syndrome using limited deoxynucleotide triphosphates and high-resolution melting

Published:2018-06-20 Issue:1 Volume:19 Page:
ISSN:1471-2164
Container-title:BMC Genomics
language:en
Short-container-title:BMC Genomics

Author:

Zhang Xiaoqing,Wang Bo,Zhang Lichen,You Guoling,Palais Robert A.,Zhou Luming,Fu Qihua

Funder

the National Natural Science Foundation of China

Shanghai Sailing Program

Shen Kang municipal hospital emerging frontier technology joint research project

Translational Medicine Collaborative Innovation research project of Shanghai Jiao Tong University School of Medicine

Publisher

Springer Science and Business Media LLC

Subject

Genetics,Biotechnology

Link

http://link.springer.com/content/pdf/10.1186/s12864-018-4833-4.pdf

Reference31 articles.

1. Redon R, Ishikawa S, Fitch KR, Feuk L, Perry GH, Andrews TD, Fiegler H, Shapero MH, Carson AR, Chen W, et al. Global variation in copy number in the human genome. Nature. 2006;444(7118):444–54.

2. Carter NP. Methods and strategies for analyzing copy number variation using DNA microarrays. Nat Genet. 2007;39:S16–21.

3. Shen Y, Wu B-L. Designing a simple multiplex ligation-dependent probe amplification (MLPA) assay for rapid detection of copy number variants in the genome. J Genet Genomics. 2009;36(4):257–65.

4. Zhou L, Palais RA, Paxton CN, Geiersbach KB, Wittwer CT. Copy number assessment by competitive PCR with limiting deoxynucleotide triphosphates and high-resolution melting. Clin Chem. 2015;61(5):724–33.

5. Merikangas AK, Corvin AP, Gallagher L. Copy-number variants in neurodevelopmental disorders: promises and challenges. Trends Genet. 2009;25(12):536–44.

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