Evaluation of three read-depth based CNV detection tools using whole-exome sequencing data-Reference-Cited by-同舟云学术

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Evaluation of three read-depth based CNV detection tools using whole-exome sequencing data

Published:2017-08-23 Issue:1 Volume:10 Page:
ISSN:1755-8166
Container-title:Molecular Cytogenetics
language:en
Short-container-title:Mol Cytogenet

Author:

Yao Ruen,Zhang Cheng,Yu Tingting,Li Niu,Hu Xuyun,Wang Xiumin,Wang Jian,Shen Yiping

Publisher

Springer Science and Business Media LLC

Subject

Biochemistry (medical),Genetics (clinical),Genetics,Molecular Biology,Molecular Medicine,Biochemistry

Link

http://link.springer.com/content/pdf/10.1186/s13039-017-0333-5.pdf

Reference30 articles.

1. Feuk L, Carson AR, Scherer SW. Structural variation in the human genome. Nat Rev Genet. 2006;7(2):85–97.

2. Sharp AJ, Cheng Z, Eichler EE. Structural variation of the human genome. Annu Rev Genomics Hum Genet. 2006;7:407–42.

3. Martin CL, Kirkpatrick BE, Ledbetter DH. Copy number variants, aneuploidies, and human disease. Clin Perinatol. 2015;42(2):227–42. vii

4. Fiorentino F, Napoletano S, Caiazzo F, Sessa M, Bono S, Spizzichino L, Gordon A, Nuccitelli A, Rizzo G, Baldi M. Chromosomal microarray analysis as a first-line test in pregnancies with a priori low risk for the detection of submicroscopic chromosomal abnormalities. Eur J Hum Genet. 2013;21(7):725–30.

5. Manning M. Hudgins L; professional practice and guidelines committee. Array-based technology and recommendations for utilization in medical genetics practice for detection of chromosomal abnormalities. Genet Med. 2010;12(11):742–5.

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