Comparison of kNN and k-means optimization methods of reference set selection for improved CNV callers performance
Author:
Funder
Iuventus Plus
Publisher
Springer Science and Business Media LLC
Subject
Applied Mathematics,Computer Science Applications,Molecular Biology,Biochemistry,Structural Biology
Link
http://link.springer.com/content/pdf/10.1186/s12859-019-2889-z.pdf
Reference19 articles.
1. Zhang F, Gu W, E Hurles M, R Lupski J. Copy Number Variation in Human Health, Disease, and Evolution. Ann Rev Genomics Hum Genet. 2009; 10:451–81.
2. Stankiewicz P, R Lupski J. Structural Variation in the Human Genome and its Role in Disease. Ann Rev Med. 2010; 61:437–55.
3. Yao R, Zhang C, Yu T, Li N, Hu X, Wang X, Wang J, Shen Y. Evaluation of three read-depth based cnv detection tools using whole-exome sequencing data. Mol Cytogenet. 2017; 10(1):30.
4. Tan R, Wang Y, Kleinstein SE, Liu Y, Zhu X, Guo H, Jiang Q, Allen AS, Zhu M. An evaluation of copy number variation detection tools from whole-exome sequencing data. Hum Mutat. 2014; 35(7):899–907.
5. Sadedin S, Ellis J, Masters S, Oshlack A. Ximmer: A system for improving accuracy and consistency of cnv calling from exome data. Gigascience. 2018; 7(10):giy112. Oxford University Press.
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