5.9
CiteScore
5.9
Impact Factor
Volume 44 Issue 7
Jul.  2017
Turn off MathJax
Article Contents

CNVbase: Batch identification of novel and rare copy number variations based on multi-ethnic population data

doi: 10.1016/j.jgg.2017.07.001
More Information
  • Corresponding author: E-mail address: zhangfeng@fudan.edu.cn (Feng Zhang); E-mail address: lijin@fudan.edu.cn (Li Jin)
  • Received Date: 2017-04-16
  • Accepted Date: 2017-07-10
  • Rev Recd Date: 2017-07-05
  • Available Online: 2017-07-11
  • Publish Date: 2017-07-20
  • loading
  • [1]
    Abecasis, G.R., Auton, A., Brooks, L.D. et al. An integrated map of genetic variation from 1,092 human genomes Nature, 491 (2012),pp. 56-65
    [2]
    Alkan, C., Coe, B.P., Eichler, E.E. Genome structural variation discovery and genotyping Nat. Rev. Genet., 12 (2011),pp. 363-376
    [3]
    Campbell, C.D., Sampas, N., Tsalenko, A. et al. Population-genetic properties of differentiated human copy-number polymorphisms Am. J. Hum. Genet., 88 (2011),pp. 317-332
    [4]
    Conrad, D.F., Pinto, D., Redon, R. et al. Origins and functional impact of copy number variation in the human genome Nature, 464 (2010),pp. 704-712
    [5]
    Iafrate, A.J., Feuk, L., Rivera, M.N. et al. Detection of large-scale variation in the human genome Nat. Genet., 36 (2004),pp. 949-951
    [6]
    Itsara, A., Cooper, G.M., Baker, C. et al. Population analysis of large copy number variants and hotspots of human genetic disease Am. J. Hum. Genet., 84 (2009),pp. 148-161
    [7]
    Kim, J.H., Hu, H.J., Chung, Y.J. Web-based database and viewer of East Asian copy number variations Genomics Inf., 10 (2012),pp. 65-67
    [8]
    Lou, H., Li, S., Yang, Y. et al. A map of copy number variations in Chinese populations PLoS One, 6 (2011),p. e27341
    [9]
    Lupski, J.R. Structural variation in the human genome N. Engl. J. Med., 356 (2007),pp. 1169-1171
    [10]
    MacDonald, J.R., Ziman, R., Yuen, R.K. et al. The Database of Genomic Variants: a curated collection of structural variation in the human genome Nucleic Acids Res., 42 (2014),pp. 986-992
    [11]
    Ogasawara, O., Mashima, J., Kodama, Y. et al. DDBJ new system and service refactoring Nucleic Acids Res., 41 (2013),pp. 25-29
    [12]
    Park, H., Kim, J.I., Ju, Y.S. et al. Discovery of common Asian copy number variants using integrated high-resolution array CGH and massively parallel DNA sequencing Nat. Genet., 42 (2010),pp. 400-405
    [13]
    Perry, G.H., Ben-Dor, A., Tsalenko, A. et al. The fine-scale and complex architecture of human copy-number variation Am. J. Hum. Genet., 82 (2008),pp. 685-695
    [14]
    Redon, R., Ishikawa, S., Fitch, K.R. et al. Global variation in copy number in the human genome Nature, 444 (2006),pp. 444-454
    [15]
    Ruangrit, U., Srikummool, M., Assawamakin, A. et al. Thailand mutation and variation database (ThaiMUT) Hum. Mutat., 29 (2008),pp. 68-75
    [16]
    Sebat, J., Lakshmi, B., Troge, J. et al. Large-scale copy number polymorphism in the human genome Science, 305 (2004),pp. 525-528
    [17]
    Sudmant, P.H., Rausch, T., Gardner, E.J. et al. An integrated map of structural variation in 2,504 human genomes Nature, 526 (2015),pp. 75-81
    [18]
    Tan, E.C., Loh, M., Chuon, D. et al. Singapore Human Mutation/Polymorphism Database: a country-specific database for mutations and polymorphisms in inherited disorders and candidate gene association studies Hum. Mutat., 27 (2006),pp. 232-235
    [19]
    Wu, N., Ming, X., Xiao, J. et al. N. Engl. J. Med., 372 (2015),pp. 341-350
    [20]
    Zhang, F., Gu, W., Hurles, M.E. et al. Copy number variation in human health, disease and evolution Annu. Rev. Genomics Hum. Genet., 10 (2009),pp. 451-481
  • 加载中

Catalog

    通讯作者: 陈斌, bchen63@163.com
    • 1. 

      沈阳化工大学材料科学与工程学院 沈阳 110142

    1. 本站搜索
    2. 百度学术搜索
    3. 万方数据库搜索
    4. CNKI搜索

    Article Metrics

    Article views (80) PDF downloads (3) Cited by ()
    Proportional views
    Related

    /

    DownLoad:  Full-Size Img  PowerPoint
    Return
    Return