A survey of analysis software for array-comparative genomic hybridisation studies to detect copy number variation

被引:0
|
作者
Karimpour-Fard A. [1 ]
Dumas L. [2 ]
Phang T. [3 ]
Sikela J.M. [2 ]
Hunter L.E. [1 ]
机构
[1] Center for Computational Pharmacology, University of Colorado, School of Medicine, Aurora
[2] Department of Pharmacology, Health Sciences Center, University of Colorado at Denver, Aurora
[3] Department of Medicine, University of Colorado Denver, School of Medicine, Denver
基金
美国国家卫生研究院;
关键词
aCGH; CNV; copy number variants; deletion; duplication; insertion;
D O I
10.1186/1479-7364-4-6-421
中图分类号
学科分类号
摘要
Copy number variants (CNVs) create a major source of variation among individuals and populations. Array-based comparative genomic hybridisation (aCGH) is a powerful method used to detect and compare the copy numbers of DNA sequences at high resolution along the genome. In recent years, several informatics tools for accurate and efficient CNV detection and assessment have been developed. In this paper, most of the well known algorithms, analysis software and the limitations of that software will be briefly reviewed.
引用
收藏
页码:421 / 427
页数:6
相关论文
共 33 条
  • [1] An empirical analysis of intention to use array-comparative genomic hybridisation method
    Wei, Ching-Kuo
    Chen, Shun-Hsing
    Chen, Ming-Chih
    INTERNATIONAL JOURNAL OF BIOMEDICAL ENGINEERING AND TECHNOLOGY, 2016, 21 (03) : 279 - 294
  • [2] Array Comparative Genomic Hybridization (Array CGH) for Detection of Genomic Copy Number Variants
    Ahn, Joo Wook
    Coldwell, Michael
    Bint, Susan
    Ogilvie, Caroline Mackie
    JOVE-JOURNAL OF VISUALIZED EXPERIMENTS, 2015, (96):
  • [3] Diagnosis of copy number variation by Illumina next generation sequencing is comparable in performance to oligonucleotide array comparative genomic hybridisation
    Hayes, J. L.
    Tzika, A.
    Thygesen, H.
    Berri, S.
    Wood, H. M.
    Hewitt, S.
    Pendlebury, M.
    Coates, A.
    Willoughby, L.
    Watson, C. M.
    Rabbitts, P.
    Roberts, P.
    Taylor, G. R.
    GENOMICS, 2013, 102 (03) : 174 - 181
  • [4] A customized high-resolution array-comparative genomic hybridization to explore copy number variations in Parkinson's disease
    La Cognata, Valentina
    Morello, Giovanna
    Gentile, Giulia
    D'Agata, Velia
    Criscuolo, Chiara
    Cavalcanti, Francesca
    Cavallaro, Sebastiano
    NEUROGENETICS, 2016, 17 (04) : 233 - 244
  • [5] A customized high-resolution array-comparative genomic hybridization to explore copy number variations in Parkinson’s disease
    Valentina La Cognata
    Giovanna Morello
    Giulia Gentile
    Velia D’Agata
    Chiara Criscuolo
    Francesca Cavalcanti
    Sebastiano Cavallaro
    neurogenetics, 2016, 17 : 233 - 244
  • [6] A genome-wide survey of copy number variation regions in various chicken breeds by array comparative genomic hybridization method
    Wang, Y.
    Gu, X.
    Feng, C.
    Song, C.
    Hu, X.
    Li, N.
    ANIMAL GENETICS, 2012, 43 (03) : 282 - 289
  • [7] Characterization of copy number variation in genomic regions containing STR loci using array comparative genomic hybridization
    Repnikova, Elena A.
    Rosenfeld, Jill A.
    Bailes, Andrea
    Weber, Cecilia
    Erdman, Linda
    McKinney, Aimee
    Ramsey, Sarah
    Hashimoto, Sayaka
    Thrush, Devon Lamb
    Astbury, Caroline
    Reshmi, Shalini C.
    Shaffer, Lisa G.
    Gastier-Foster, Julie M.
    Pyatt, Robert E.
    FORENSIC SCIENCE INTERNATIONAL-GENETICS, 2013, 7 (05) : 475 - 481
  • [8] Array-comparative genomic hybridization analysis in patients with Mullerian fusion anomalies
    Ledig, S.
    Tewes, A. C.
    Hucke, J.
    Roemer, T.
    Kapczuk, K.
    Schippert, C.
    Hillemanns, P.
    Wieacker, P.
    CLINICAL GENETICS, 2018, 93 (03) : 640 - 646
  • [9] Array-Comparative Genomic Hybridization Analysis in Fetuses with Major Congenital Malformations Reveals that 24% of Cases Have Pathogenic Deletions/Duplications
    Di Gregorio, Eleonora
    Gai, Giorgia
    Botta, Giovanni
    Calcia, Alessandro
    Pappi, Patrizia
    Talarico, Flavia
    Savin, Elisa
    Ribotta, Marisa
    Zonta, Andrea
    Mancini, Cecilia
    Giorgio, Elisa
    Cavalieri, Simona
    Restagno, Gabriella
    Ferrero, Giovanni B.
    Viora, Elsa
    Pasini, Barbara
    Grosso, Enrico
    Brusco, Alfredo
    Brussino, Alessandro
    CYTOGENETIC AND GENOME RESEARCH, 2015, 147 (01) : 10 - 16
  • [10] Copy number variants in locally raised Chinese chicken genomes determined using array comparative genomic hybridization
    Tian, Ming
    Wang, Yanqiang
    Gu, Xiaorong
    Feng, Chungang
    Fang, Suyun
    Hu, Xiaoxiang
    Li, Ning
    BMC GENOMICS, 2013, 14