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Cytogenetic and Genome Research

Guidelines for Authors

Categories of Manuscripts
Single Topic Issues
Conflicts of Interest
Plagiarism Policy
Literature Cited
Gene Symbols
Cell Lines in Cancer Research
Self-Archiving/Green Open Access, Author's ChoiceTM,
   Funding Organizations (NIH etc.)

Page Charges, Color Reproductions
Electronic Proofs
Supplementary Material
Requirements for Gene Mapping Reports


‘Cytogenetic and Genome Research’ publishes high quality original reports and reviews covering all aspects of chromosomes, genes and genomes in man, animals and plants.

Categories of Manuscripts for Conventional Issues

Original Articles are reports on
  • Human, Animal and Plant Cytogenetics
  • Cancer Cytogenetics
  • Molecular Cytogenetics
  • Gene Mapping, Cloning and Sequencing
  • Gene Characterization
  • Comparative Gene Mapping
  • Somatic Cell Genetics
  • Genes and Diseases
  • Developmental Genetics
  • Epigenetics.

Other categories closely related to the above topics could be considered by contacting the Editors.

Reviews covering a timely topic by experts in the field are either invited by the Editors or may be submitted for consideration.

Short Reports must present results of sufficient importance to justify accelerated acceptance. They should not be longer than 4 printed pages, including figures, tables and references.

Human Cytogenetics Case Reports are for de novo observations, particularly such which apply the use of HGMP (Human Genome Mapping Project) resources to the detailed characterization of chromosome rearrangements thereby further highlighting the nature of the abnormalities being described.

Chromosome and Gene Workshops or Reports compile data that have been collected for single chromosomes, genes or genomes, hereditary diseases and gene-phenotype correlations in man, animals and plants. Illustrations and tables may be included.

Collaborative and Interactive Research Projects are contributions from investigators who are in need of research materials, or need the assistance of colleagues with specialized expertise, or who have data that is inadequate for a full report but which could be published when combined with data of others.

Commentaries are a forum for observations, opinions, and comments outside the realm of conventional scientific papers. Original data, illustrations and tables may be included.

Novel Insights from Clinical Practice (formerly Case Reports): The journal only considers case reports that provide significant new insights into a syndromological problem. The most important aspect of the presentation is that it should provide a founded molecular insight on a recognized or entirely new genetic syndrome. The novel aspects of the case(s) may be in the phenotype and/or genotype, the presentation, and the investigation.

Single Topic Issues

The journal has a tradition in publishing a series of themed issues. For these publications we are soliciting the assistance of one or more expert investigators to act as Guest Editors in an area that is particularly interesting and/or one in which there is a need for a thorough overview. The Guest Editors invite top researchers to contribute original research reports or reviews of a topic that is in their main area of interest. These manuscripts are peer reviewed the same way as the papers received for the conventional issues. Proposals clearly outlining a theme and nominating potential Guest Editors are welcome.


Manuscripts should be submitted online

Online Manuscript Submission

Should you experience any problems with your submission, please contact the editorial office:


Claus Steinlein
Department of Human Genetics
University of Würzburg
Biozentrum, Am Hubland
D–97074 Würzburg (Germany)
Tel. (+49) 931 31-88091
Fax (+49) 931 31-84058

Authors should indicate which of the Executive or Associate Editors they feel would be most appropriate for their report.

All manuscripts are subject to editorial review. The editors reserve the right to improve style and, if necessary, return the manuscript for rewriting to the authors. The editorial office reserves rights to reject manuscripts based on priorities and space availability in the journal.

Conflicts of Interest

Any financial (funding, stocks, patents, employment, honoraria, royalties) or non-financial (political, personal, professional) interests/relationships that may be interpreted to have influenced the manuscript must be identified in a 'Conflicts of Interest' statement at the end of the manuscript. If there is no conflict of interest, please state "The authors declare no conflicts of interest".


Research must comply with the guidelines for human studies and animal welfare regulations. Manuscripts reporting studies on human subjects should include evidence that the research was ethically conducted in accordance with the World Medical Association Declaration of Helsinki. In particular, authors must state in a 'Statement of Ethics' at the end of the manuscript that subjects (or their parents or guardians) have given their informed written consent and that the study protocol was approved by an appropriate ethics committee. All patients should be identified by numbers or aliases, not by their real names. Authors should also state that animal experimentation was approved by the appropriate institutional review body. Copies of these guidelines and policy statements must be available for review by the editors if necessary.

Plagiarism Policy

Whether intentional or not, plagiarism is a serious violation. We define plagiarism as a case in which a paper reproduces another work with at least 25% similarity and without citation.
If evidence of plagiarism is found before/after acceptance or after publication of the paper, the author will be offered a chance for rebuttal. If the arguments are not found to be satisfactory, the manuscript will be retracted and the author sanctioned from publishing papers for a period to be determined by the responsible Editor(s).


Manuscripts must be prepared strictly in accordance with the style of this journal.

Title page: The first page should give the full names of the authors and their affiliations, the full postal address, telephone and fax numbers, as well as the e-mail address of the corresponding author.

Abstracts should be provided for all Original Articles, Reviews, Human Cytogenetics Case Reports.

Figures: Digital illustrations should be sharp with good contrast and color rendition. Resolution for all graphics should be at least 300 dots per inch. We request that all illustrations be in a common format such as .jpg (.jpeg, .jpe), .tif (.tiff), .eps or .ppt.

Tables must be in Word format. Please use MS WORD Table > Insert > Table command from the menu bar to make tables.

Literature Cited

References should be quoted in the text as follows:
   Single author:    Jones (1999)
   Two authors:    Jones and Smith (2000)
   More than two authors:    Jones et al. (2001)
The reference list should be arranged alphabetically according to the first author's surname. Titles should be given in full.

Papers published in electronic format should list authors, title and journal as above followed by the journal's URL, eg:
   Chinnappan D, Zhang Y, Ravid K:
   AIM-1 Transgenic mice with a curly tail phenotype and its chromosome location.
   Cytogenet Genome Res 98:231A (2002)
Book references must include the book title, editor(s), publisher, and city of publication.

Recent issues of the journal should be carefully consulted for reference list style.

Agreement between text citations and the reference list should be checked carefully, and the latter checked for accuracy. If many errors are found, the manuscript will be returned for corrections which may cause considerable publication delay.

Gene Symbols

Human gene symbols: Only official gene symbols of the HUGO Gene Nomenclature Committee (HGNC) are accepted. Authors must obtain or verify the official gene symbol of the gene(s) mapped and indicate that they have done so in the manuscript submitted. This can be accomplished for human genes by contacting

HUGO Gene Nomenclature Committee (HGNC)
European Bioinformatics Institute (EMBL-EBI)
Wellcome Trust Genome Campus
Hinxton, Cambridgeshire
CB10 1SA, UK
Fax +44 (0)1223 494 468
E-Mail hgnc@genenames.org
Website: www.genenames.org

Guidelines set forth by the HUGO Gene Nomenclature Committee are available at http://www.genenames.org/guidelines.html.

New symbols and names for genes can be requested electronically through the online gene symbol request form at http://www.genenames.org/cgi-bin/hgnc_request.pl.

Animal gene symbols: Authors submitting material on mouse and rat genetics should obtain correct genetic nomenclature before publication. Contact

Dr. Lois Maltais
MGD Nomenclature Coordinator
The Jackson Laboratory
600 Main Street
Bar Harbour ME 04609 (USA)
Tel. +1 (207) 288 6429
Fax +1 (207) 288 6132
E-mail nomen@informatics.jax.org
MGD home page: www.informatics.jax.org

Guidelines set forth by the International Committee on Standardized Genetic Nomenclature for Mice are available at www.informatics.jax.org/mgihome/nomen/table.shtml

New symbols and names for genes can be requested electronically through the online symbol registry form at www.informatics.jax.org/mgihome/nomen

Gene mapping data for the mouse should also be submitted to the Mouse Genome Database (MGD) following the guidelines at www.informatics.jax.org/mgihome/submissions/submit.shtml.

The assigned MDG accession numbers should be included in the manuscript for publication. Assistance with submissions can be obtained by by sending an e-mail to submissions@informatics.jax.org.

Guidelines for the Use of Cell Lines in Cancer Research

Guidelines published by the United Kingdom Coordinating Committee on Cancer Research may be downloaded from the NCRN website: http://www.ncrn.org.uk/csg/publications.htm.

Self-Archiving/Green Open Access

Karger permits authors to archive their pre-prints (i.e. pre-peer review) or post-prints (i.e. accepted manuscript after peer review but before production) on their personal or their institution’s internal website. In addition, authors may post their accepted manuscripts in public Open Access repositories and scientific networks (e.g. ResearchGate or Mendeley) no earlier than 12 months following publication of the final version of their article. For all self-archiving, the posted manuscripts must:

  • Be used for noncommercial purposes only
  • Be linked to the final version on www.karger.com
  • Include the following statement:

‘This is the peer-reviewed but unedited manuscript version of the following article: [insert full citation, e.g. Cytogenet Genome Res 2014;142:227–238 (DOI: 10.1159/000361001)]. The final, published version is available at http://www.karger.com/?doi=[insert DOI number].’

It is the author’s responsibility to fulfill these requirements.

For papers published online first with a DOI number only, full citation details must be added as soon as the paper is published in its final version. This is important to ensure that citations can be credited to the article.

Manuscripts to be archived in PubMed Central due to funding requirements will be submitted by Karger on the author’s behalf [see Funding Organizations (NIH etc.)].

For self-archiving Author's ChoiceTM (Gold Open Access) articles, see Author's ChoiceTM.

Author's ChoiceTM

Karger’s Author's ChoiceTM service broadens the reach of your article and gives all users worldwide free and full access for reading, downloading and printing at www.karger.com. The option is available for a one-time fee of CHF 3,000.00, which is a permissible cost in grant allocation. More information can be found at www.karger.com/authors_choice.
The final, published version of the article may be posted at any time and in any repository or on other websites, in accordance with the relevant Creative Commons license. Reposted Open Access articles must:

  • Follow the terms of the relevant Creative Commons license
  • Be linked to the final version on www.karger.com
  • Include the following statement:

‘The final, published version of this article is available at http://www.karger.com/?doi=[insert DOI number].’

It is the author’s responsibility to fulfill these requirements.

For papers published online first with a DOI number only, full citation details must be added as soon as the paper is published in its final version. This is important to ensure that citations can be credited to the article.

Funding Organizations (NIH etc.)

The U.S. National Institutes of Health (NIH) Public Access Policy mandates that accepted, peer-reviewed manuscripts are archived in its digital database, PubMed Central (PMC), within 12 months of the official publication date. As a service to authors, Karger submits NIH-funded articles to PMC on behalf of the authors immediately upon publication. The NIH assigns a PMCID within approximately 1 month and the manuscript will appear in PMC after a 12-month embargo. For authors making their paper Open Access through Author's ChoiceTM, the embargo will be overridden, thereby accelerating the accessibility of the article. Karger also complies with other funders’ requirements (including Wellcome Trust and RCUK) for submission to PMC.
Authors should include information on their grant in the Acknowledgements section of their papers.

Page Charges, Color Reproductions

There are no page charges for articles of 8 or less printed pages (including tables, illustrations and references). Each additional complete or partial page is charged to the author at CHF 325.–. 1 printed page is equal to approximately 3 manuscript pages.

There are no charges for illustrations and color reproductions.

Electronic Proofs

Unless otherwise indicated, proofs are e-mailed to the corresponding author.

Supplementary Material

Multimedia files and other supplementary files, directly relevant but not essential to the conclusions of a paper, enhance the online version of a publication and increase its visibility on the web. These files will undergo editorial review. The Editors reserve the right to limit the scope and length of the supplementary material. Multimedia and supplementary material should meet production quality standards for publication without the need for any modification or editing. Files should not exceed 10 MB in size. Figures and tables need to have titles and legends, and all files should be supplied separately and labeled clearly. All supplementary material should be referred to in the main text. A DOI number will be assigned to supplementary material and it will be hosted online at https://karger.figshare.com under a CC BY license. Authors will be charged a processing fee of CHF 250.00 for supplementary material.


Reprints are available against payment.

Order forms listing prices are provided with the proofs. If no reprints are desired this should be indicated on the form.

Orders submitted after the issue has gone to press are subject to considerably higher prices.

Requirements for Gene Mapping Reports

 1. The gene must not have been previously mapped by any technique.
Authors should check the above listed databases to determine if this is true. This means that mapping confirmations will not be accepted. Relocations of genes incorrectly mapped within a major chromosome band, i.e., to a different subband, will not be accepted. However, genes that are relocated a significant distance from the one to which it had been assigned, or to another chromosome, will be accepted. The evidence for the new assignment must be obtained with two different methods.

 2. Well-described flanking markers must be given for all mapping assignments.
The relative location of the flanking markers can be established by standard radiation hybrid or mouse backcross panels. For mapping by fluorescence in situ hybridization (FISH), the markers must be within 5 cM or 5 Mb of the gene or genes that have been mapped.

 3. The results from DNA sequence database searches must be given for the mapped gene(s).
The entire sequences should not be given, just the size, degree of the matches and their significance. If several sequences are involved, this should be presented in a concise table listing the standardized gene names as established by the HUGO Gene Nomenclature Committee (see above) and accession numbers of the matching sequences. The human chromosome reference sequences nucleotide position of mapped genes should also be given as they become available.

The following categories must be collected into a single publication if submitted from one group of investigators:
(a) All cDNAs representing a single multigene family
(b) Genes located within a single chromosome band
(c) A series of orthologous genes when the results of comparative mapping studies in the mouse (or some other species) and human genes are reported.

Authors of both accepted and not accepted papers are encouraged to submit their data to mapping databases. The mirror sites of the Genome Database (www.gdb.org) are prepared to accept the data if presented in the short report format.