Special Issue "Copy-Number-Variation Microarrays in Basic Research and Clinical Applications"


A special issue of Microarrays (ISSN 2076-3905).

Deadline for manuscript submissions: closed (30 September 2013)

Special Issue Editor

Guest Editor
Dr. Tobias Heckel

Department of Molecular Toxicology, F.Hoffmann-La Roche AG, CH-4070 Basel, Switzerland
Website: http://www.roche.com
Interests: genetic polymorphisms; CNV Arrays; SNP genotyping; molecular karyotyping; transcriptomics; genome structure and expression; integrative genomics; genotype-phenotype correlations

Special Issue Information

Dear Colleagues

Over the last years microarray technology has greatly improved the fields of structural genetic research and chromosomal disorders. Established cytogenetic and molecular techniques suffer of low resolution, limited to 5–10 megabases, like Giemsa-banded chromosome analysis, or are restricted in detecting only a few specific DNA regions like fluorescence in situ hybridization. Oligonucleotide microarrays containing millions of probes enabled the detection of sub-microscopic structural genetic variations, genome-wide, at ultra-high resolution down to a few hundred till thousand bases. Although high coverage next generation DNA sequencing can detect structural genetic variations, microarray screening is expected to be the main approach for several years due to its user-friendly workflow, lower cost and straightforward data interpretation.
This special issue invites contributions to the application and evaluation of microarrays for the discovery and diagnosis of structural genetic variations with a focus on Copy Number Variations (CNVs). These variations account for a substantial proportion of genetic variability in human and animal populations and range from seemingly neutral polymorphisms over polymorphisms correlating with phenotypic differences to pathological variations predisposing or causing disease.
It will be interesting to the reader of this special issue to increase the understanding of how microarray technology helped revealing the biological meaning of CNVs but also to learn about recent advances in CNV calling, database aided classification, and CNV phenotype correlations.

Dr. Tobias Heckel
Guest Editor


Manuscripts should be submitted online at www.mdpi.com by registering and logging in to this website. Once you are registered, click here to go to the submission form. Manuscripts can be submitted until the deadline. Papers will be published continuously (as soon as accepted) and will be listed together on the special issue website. Research articles, review articles as well as communications are invited. For planned papers, a title and short abstract (about 100 words) can be sent to the Editorial Office for announcement on this website.

Submitted manuscripts should not have been published previously, nor be under consideration for publication elsewhere (except conference proceedings papers). All manuscripts are refereed through a peer-review process. A guide for authors and other relevant information for submission of manuscripts is available on the Instructions for Authors page. Microarrays is an international peer-reviewed Open Access quarterly journal published by MDPI.

Please visit the Instructions for Authors page before submitting a manuscript. The Article Processing Charge (APC) for publication in this open access journal is 300 CHF (Swiss Francs). English correction and/or formatting fees of 250 CHF (Swiss Francs) will be charged in certain cases for those articles accepted for publication that require extensive additional formatting and/or English corrections.


  • array Comparative Genomic Hybridization
  • SNP genotyping arrays
  • clinical cytogenetics
  • chromosomal disorders
  • CNV calling algorithms
  • neurobehavioral phenotypes
  • genomic instability
  • genotype-phenotype correlations

Published Papers (6 papers)

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Displaying article 1-6
p. 52-71
by , ,  and
Microarrays 2014, 3(1), 52-71; doi:10.3390/microarrays3010052
Received: 1 December 2013 / Revised: 10 February 2014 / Accepted: 12 February 2014 / Published: 28 February 2014
Show/Hide Abstract | Cited by 1 | PDF Full-text (495 KB) | HTML Full-text | XML Full-text
p. 24-38
by  and
Microarrays 2014, 3(1), 24-38; doi:10.3390/microarrays3010024
Received: 15 December 2013 / Revised: 22 January 2014 / Accepted: 23 January 2014 / Published: 5 February 2014
Show/Hide Abstract | Cited by 2 | PDF Full-text (158 KB) | HTML Full-text | XML Full-text | Supplementary Files
p. 304-317
by , ,  and
Microarrays 2013, 2(4), 304-317; doi:10.3390/microarrays2040304
Received: 22 October 2013 / Revised: 19 November 2013 / Accepted: 27 November 2013 / Published: 5 December 2013
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p. 284-303
by , , ,  and
Microarrays 2013, 2(4), 284-303; doi:10.3390/microarrays2040284
Received: 20 September 2013 / Revised: 24 October 2013 / Accepted: 25 October 2013 / Published: 6 November 2013
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p. 265-283
by  and
Microarrays 2013, 2(3), 265-283; doi:10.3390/microarrays2030265
Received: 2 August 2013 / Revised: 29 August 2013 / Accepted: 30 August 2013 / Published: 4 September 2013
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p. 171-185
by , , ,  and
Microarrays 2013, 2(3), 171-185; doi:10.3390/microarrays2030171
Received: 2 May 2013 / Revised: 4 June 2013 / Accepted: 5 June 2013 / Published: 25 June 2013
Show/Hide Abstract | Cited by 9 | PDF Full-text (183 KB) | HTML Full-text | XML Full-text
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Last update: 30 July 2013

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