Human Mutation

Cover image for Vol. 37 Issue 6

Edited By: Richard G.H. Cotton (1940-2015) and Garry R. Cutting

Impact Factor: 5.34

ISI Journal Citation Reports © Ranking: 2014: 25/167 (Genetics & Heredity)

Online ISSN: 1098-1004

Author Guidelines

Revised September 2013

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Publication Forms

Author Guidelines


Human Mutation Editorial Office, John Wiley & Sons, Inc., 111 River Street, Hoboken, NJ 07030-5774, USA, Phone: (201) 748-6404; Fax: (201) 748-6398; E-mail:;


Prepare your manuscript and illustrations in appropriate format, according to the instructions given at ScholarOne Manuscripts (formerly known as Manuscript Central) Be sure that your paper conforms to the scientific and style instructions of the journal, given below.
Create an account for yourself in the system at the submission site, or enter your e-mail address if you think you might already have an account.
Please be sure to study the Instructions and Forms given at the site carefully, and then let the system guide you through the submission process. Online help is available to you at all times during the process. You are also able to exit/re-enter the process at any stage before finally "submitting" your work. All submissions are kept strictly confidential. If you have any questions, do not hesitate to contact us at


Human Mutation is a peer-reviewed journal that publishes original Research Articles, Brief Reports, Rapid Communications, Methods, Informatics, Databases, Reviews, and Mutation Updates on broad aspects of human genetic variation and inherited disease research. Reports of novel DNA variations and their functional and phenotypic consequences, new disease genes/phenotypes, studies of SNVs demonstrated as valuable for genomic analysis, descriptions of new molecular detection methods, and cutting-edge bioinformatic applications to medical genetics are welcomed. Novel reports of gene organization at the genomic level, reported in the context of inherited or common disease, may be considered. The journal provides a unique forum for the exchange of ideas, methods, and applications of interest to molecular, human, and medical geneticists in academic, industrial, and clinical research settings worldwide.


All manuscripts submitted to Human Mutation must be submitted solely to this journal and may not have been published in another publication of any type. No portion of a manuscript may be under consideration for publication elsewhere, or published elsewhere in a manner that could be construed as a prior or duplicate publication of the same, or very similar work. No published material may be reproduced or published elsewhere without the written permission of the publisher and the author. The journal will not be responsible for the loss of manuscripts at any time. All statements in, or omissions from, published manuscripts are the responsibility of the authors, who will assist the Publisher by reviewing page proofs before publication. Reprints: Reprints may be purchased at Additional data accompanying some articles may be published as online Supporting Information, at the Editors’ discretion.


If your paper is accepted, the author identified as the formal corresponding author for the paper will receive an email prompting them to login into Author Services; where via the Wiley Author Licensing Service (WALS) they will be able to complete the license agreement on behalf of all authors on the paper.

For authors signing the copyright transfer agreement:
If the OnlineOpen option is not selected the corresponding author will be presented with the copyright transfer agreement (CTA) to sign. The terms and conditions of the CTA can be previewed in the samples associated with the Copyright FAQs below:
CTA Terms and Conditions

For authors choosing OnlineOpen:
If the OnlineOpen option is selected the corresponding author will have a choice of the following Creative Commons License Open Access Agreements (OAA):
Creative Commons Attribution License OAA
Creative Commons Attribution Non-Commercial License OAA
Creative Commons Attribution Non-Commercial -NoDerivs License OAA
To preview the terms and conditions of these open access agreements please visit the Copyright FAQs hosted on Wiley Author Services and visit
If you select the OnlineOpen option and your research is funded by The Wellcome Trust and members of the Research Councils UK (RCUK) you will be given the opportunity to publish your article under a CC-BY license supporting you in complying with Wellcome Trust and Research Councils UK requirements. For more information on this policy and the Journal’s compliant self-archiving policy please visit:


Human Mutation is a member of, and subscribes to the principles of, the Committee on Publication Ethics (COPE) (

Authors in Japan please note: Wiley-Japan can provide authors in Japan with a list of recommended services so they may copyedit and correct English grammar in their papers BEFORE submission. Please visit the website

Authors in China please note: Authors in China can visit the Author Resources site on for additional resources, including tips for English writing skills, and bilingual, short presentations on different topics of interest.


Wiley-Blackwell requires that all authors disclose any potential sources of conflict of interest. Any interest or relationship, financial or otherwise, that might be perceived as influencing an author’s objectivity is considered a potential source of conflict of interest. These must be disclosed when directly relevant or indirectly related to the work that the authors describe in their manuscript. Potential sources of conflict of interest include but are not limited to patent or stock ownership, membership of a company board of directors, membership of an advisory board or committee for a company, and consultancy for or receipt of speaker’s fees from a company. The existence of a conflict of interest does not preclude publication in this journal.

If the authors have no conflict of interest to declare, they must also state this at submission.It is the responsibility of the corresponding author to review this policy with all authors and to collectively list in the cover letter to the Editor-in-Chief, in the manuscript (under the Acknowledgments section), and in the online submission system ALL pertinent commercial and other relationships.


Research Articles

  • Describe functional/structural consequences of mutations in proteins.
  • Examine important genotype/phenotype relationships, especially in context of multiple mutations, SNPs, and/or novel gene(s) in single-gene disorders or complex diseases.
  • Apply large-scale mutation and polymorphism detection or screening techniques for clinical diagnosis and counseling.
  • Highlight identification and use of mutations in forensics, disease diagnosis, tissue typing, and cancer.
  • Describe a significant number of related novel mutations in expressed genes.
  • Describe in detail mutations in other species that have relevance to human disease.
  • Describe in-depth functional studies of novel single mutations in newly cloned genes or unique cases, when of demonstrated significance.

Brief Reports

  • Are concise (~2-4 page), high-impact observations relevant to medical and molecular genetics. Evaluation is highly selective and only a few will be published per issue. Brief Reports describe:
    • Original discoveries of novel disease-causing genes of broad interest, with phenotypic data and some functional analysis;
    • Descriptions of one or a few novel disease mutations with basic functional studies that the editors feel provide key insights into the biological basis of inherited Mendelian or common disease or phenotype;
    • Other observations relevant to medical and molecular genetics, at the editors’ discretion.
  • The editors welcome author inquiries regarding potential content. Please contact the Managing Editor with questions (

Rapid Communications

  • Report exceptionally timely new research results. Contact the Managing Editor at before submission for advice or appropriateness.

Methods Articles

  • Detail novel methods for mutation detection, analysis, and use in screening.
  • Report in-depth comparative analysis of different detection methods; should include cost/benefit analysis and/or discuss quality control.
  • Describe progress useful in mutation collection, documentation, databasing and distribution.

Mutation Updates

  • Briefly review and summarize all mutations and polymorphisms in specific genes, including functional and clinical significance.
  • Synthesize the spectrum of mutations in genes with particular research or medical interests.
  • Highlight relevant animal models.
  • Include sections discussing genotype-phenotype correlation, diagnostic relevance, clinical implications, and future prospects.
  • In cases where a significant number of novel mutations/polymorphisms accompanied with detailed functional analysis are to be reported, the Editors may consider co-review and co-publication of a separate Research Article presenting such variants.
  • Please inquire with the editors ( to suggest a topic and to receive the journal's Mutation Update author guidelines (updated 2009).

Review Articles

  • Summarize information on gene families or regions and their function and clinical significance.
  • Analyze strategies in the clinical investigation of mutations.
  • Survey methodologies or diagnostic strategies relevant to the field of mutation/SNP detection, clinical diagnosis, etc.
  • Survey mutation databases or programs used for databases.
  • Please inquire with the editors ( to suggest a topic.


  • Describe software tools, platforms, etc., for bioinformatic analysis.

Database Articles

  • Describe individual locus-specific (LSDB) or central mutation databases and related software or bioinformatic technologies.
  • Include data analysis that provides novel biologic information gained from the database.
  • Discuss current issues of importance regarding genome variation databases.
  • At the editors' discretion, Database articles that are notable, concise, descriptive, but that do not provide significant information or insight regarding the biology of mutations, may be published as a Database in Brief (DIB), an online-only article type.
  • Simple descriptions of LSDBs or other databases that in the editors’ view do not add sufficiently to the published literature will not be considered.

Special Articles

  • Cover a wide range of topics pertinent to the field, including nomenclature, genetic testing, bioinformatics, and ethical issues.
  • Usually invited. Suggestions are welcome. Please contact the Managing Editor at (

Letters to the Editors

  • Peer-reviewed general correspondence. Letters commenting on and/or calling into question research published in Human Mutation will be sent to the original author for rebuttal if they pass peer and editorial review.


Ethical Compliance

Authors are responsible for confirming that research performed on human subjects complies with standards established by an appropriate ethics review committee (IRB in the United States) and the granting agency. If the manuscript includes data or description of patients, the authors should provide (1) a statement in the manuscript that the research was prospectively reviewed and approved by a duly constituted ethics committee OR (2) a statement in a cover letter to the editors that the manuscript is a retrospective case report that does not require ethics committee approval at that institution. For Database articles: it should be stated that patient clinical data have been obtained in a manner conforming with IRB and/or granting agency ethical guidelines. Any other situations not covered here should be discussed with the editorial staff.

Patient Anonymity and Pedigrees

To protect patient confidentiality, authors must not use actual patient names or initials in the manuscript text, tables, or pedigrees. Please use a coded designation instead. Patient pedigrees should only be used when absolutely necessary, and the editors may request their omission. Pedigree nomenclature guidelines should be as stipulated in Bennett et al. AJHG 56:745–52, 1995. At the editor's discretion, patient photos can be included if proper consent is provided.

Animal Research Data

Animal experiments should be in keeping with ARRIVE guidelines (published in PLoS Biology; for more information see These guidelines describe the minimum information necessary to ensure that the reporting of animal experiments is transparent and comprehensive.

Validation of Mutations (approved by the HUGO Mutation Database Initiative/Human Genome Variation Society)

Identified mutations resulting in disease should be confirmed on a second sample. Mutations detected by PCR methods must be confirmed on a second PCR product.

The complete coding sequence should have been scanned or sequenced to eliminate the possibility of the presence of other mutations.

For disease-causing mutations, it must be established by at least two methods (in absence of expression studies, and with the exceptions of generated stop codons and deletions) that the mutation likely causes disease. Possible methods include linkage to disease in a family, concurrent appearance of the phenotype with a de novo mutation, or determination that the mutation is absent among at least 50 normal individuals (100 alleles) or involves a highly conserved amino acid.

Submission of Data to Genetic Databases

Human Mutation supports the recommendations of the Human Variome Project (Cotton RGH et al. 2007. Nat Genet. 39: 433 Consequently, authors are required to submit all variants included in an article to the respective Locus Specific Database (LSDB) prior to acceptance. (Submission to LSDB is a requirement for Mutation Updates if such an LSDB is available.) In the case of dbSNP, the identification numbers should be used to describe the SNPs in the manuscript. Authors must confirm the status of database submission in their cover letter. In addition, authors should note in the manuscript (e.g., in the methods section) the LSDB(s) to which they have submitted their variants and provide the URL. The Editors also encourage the use of widely accessible genetics databases as repositories for human gene mapping information, including loci (genes, fragile sites, DNA segments), and probes. Further information and updates on this policy, including links to Locus-Specific Databases, can be obtained from the Human Genome Variation Society (HGVS) web site

Microarray data should be MIAME compliant (for guidelines see

Manuscripts Describing Prediction Methods or Using Such Methods

Authors describing new prediction methods or applying such methods must provide a full description. The methods have to be explained in detail, including e.g. method description; datasets used; performance assessment and implementation. When any predictors are used for interpretations, full details about the method, version, parameters, validation, etc. must be provided. More detailed guidelines are published in Vihinen, 2013: "Guidelines for Reporting and Using Prediction Tools for Genetic Variation Analysis"; (Hum Mutat 34(2): 275-282, 2013).



Because of the importance of the issue and the overall consensus on the rules, Human Mutation is adopting an editorial policy that requires absolute compliance with the rules to describe sequence variants before manuscripts will be accepted and published.

The most current guidelines are summarized on the Mutation Nomenclature Homepage at the HGVS website ( Examples of acceptable nomenclature are also provided. Important considerations include:

  • Variants should be described in the text and tables using both DNA and protein designations whenever appropriate.
  • If alternative nomenclature schemes are commonly found in the literature, they may also be used in addition to approved nomenclature, but they must be defined clearly.
  • Variants may be described using dbSNP identifiers (e.g., rs123456:A>G).
  • Authors should always include the GenBank Accession Number of the relevant wild-type gene sequence(s), with version number (e.g.: RefSeq NM_123456.3 or GenBank U654321.1), in the Materials and Methods section and as a footnote in tables listing mutations.

Acceptance and/or publication may be delayed if authors are unable to follow the guidelines properly. Authors are advised to check sequence variant descriptions using the Mutalyzer program ( Using batch mode, all variants can be analyzed at once. Recently, an update to the mutation nomenclature was published regarding complex rearrangements (Taschner and den Dunnen, Hum Mutat 32:507-511, 2011). In addition, please see the article Wildeman et al., Hum Mutat 29:6-13, 2008. Authors should also refer to den Dunnen and Antonarakis (Hum Mutat 15:7–12, 2000) and den Dunnen and Paalman (Hum Mutat 22:181-182, 2003) for additional information. Visit for the latest nomenclature updates or if you have further questions.


All manuscripts must include (when available) HGNC-approved gene symbols and OMIM database reference numbers (visit their new website at for genes and/or disorders. Approved human gene symbols should be obtained prior to submission from the HUGO Gene Nomenclature Committee (HGNC), at or by email to In addition, commonly used alternative gene and disease symbols may also be used in the abstract (180–200 words) and key words. Note: OMIM entries now clearly indicate the most current HGNC-approved gene symbol, but it may not be listed in the main title.


Priority scores given by reviewers and the Editorial Board, and available space, will be used to determine acceptance or rejection. In the interest of space, page limits will be strictly enforced at the discretion of the Editors. Online use of supporting information may be requested.


Authors should submit their manuscript directly to the journal via the online submission system, available at A cover letter should include a list of 2-3 Communicating Editors whom the author would consider appropriate to administer the paper. (The most up-to-date list of Communicating Editors can be found on the journal home page.) The Editorial Office will make every effort to accommodate these requests. If the manuscript is considered by the Editorial Board as a candidate for peer review, the Managing Editor will work with the Communicating Editors and/or Co-Editors to coordinate peer review and will receive recommendations regarding publication or rejection. Please note that Communicating Editors cannot communicate work from their own laboratories and are discouraged from communicating work from colleagues at their own institutions.

IMPORTANT: If the manuscript was invited, please indicate so, and by whom, in a cover letter.

Redundant material such as a repeat of often-described background or previously defined methodology should be avoided by referring to reviews or recent papers.

Authors who have questions about the appropriateness of their work for Human Mutation or questions about submissions should contact the Managing Editor, Dr. Mark H. Paalman, at the Editorial Office (

Delayed revisions policy: Following review, any manuscript for which revision has been requested must be returned within three months or it will be considered withdrawn. A revised manuscript sent after three months may be treated as a new submission, subject to any new editorial policies.

Search Engine Optimization for Your Paper
Consult our SEO Tips for Authors page in order to maximize online discoverability for your published research. Included are tips for making your title and abstract SEO-friendly, choosing appropriate keywords, and promoting your research through social media.

Guidelines for Cover Submissions

If you would like to send suggestions for artwork related to your manuscript to be considered to appear on the cover of the journal, please follow these general guidelines

All Manuscripts

Formatting of manuscripts: Manuscripts must be formatted as double-spaced, 8½ x 11 inch or A4 documents with 1" margins all around. A 12-point font (preferably Times New Roman) should be used, but common Greek letters, symbols, or special characters are allowed.

Color figures policy:

Color figures are welcome but they are published in the print journal at cost to the author; quotes will be provided from the publisher upon acceptance. All color figures will be reproduced in full color in the online edition of the journal at no cost to authors. Authors are encouraged to submit color illustrations that convey essential scientific information. For best reproduction, bright, clear colors should be used. Dark colors against a dark background do not reproduce well; please place your color images against a white background wherever possible. There are no page charges for publication, other than for color reproduction. Please contact Production Editor Sean Yaftali at for further information.

Article types:

Research Articles, Methods, and Rapid Communications must contain sections in the following order: Title Page, Abstract (200 words max), Key Words, Introduction, Materials and Methods, Results, Discussion, Acknowledgments, References, and Figure Legends. Tables and figures must be submitted as separate files. Long tables and excessive figures may be published as online Supporting Information. Use generic names of drugs and give manufacturer of all trademarked equipment mentioned in the text. Research Article page limits are normally 20–30 double-spaced manuscript pages, including references. Methods articles should not exceed 25 manuscript pages with references. Rapid Communications should not exceed 20 manuscript pages with references and may include 1–2 tables and 2 figures as needed. To facilitate rapid review of Rapid Communications, kindly contact the Managing Editor prior to submission of the manuscript for advice on appropriateness of subject.

Brief Reports are limited to 12 double-spaced manuscript pages max with references and a maximum of 2 figures/short tables. Abbreviated methods and minimal references are allowed. A title page and an abstract of 150 words are required. The main text should then be continuous, not subdivided with headings. Authors are encouraged to supplement Brief Reports with online supporting information as necessary, in order to maintain the brief format.

Informatics and Database Articles must include an Abstract (200 words max), but otherwise can contain headings appropriate to the subject discussed. Figures and tables are encouraged. Length should be approximately 18–25 double-spaced manuscript pages with references. Extra data can be published online. If the editors suggest instead a Database in Brief (DIB) format, further instructions will be provided by the Editorial Office.

Mutation Updates must include an Abstract (180–200 words), Key Words, and specific headings such as Mutations and Polymorphisms Defined, Genotype-Phenotype Correlation, Biological Significance, Clinical Significance, Diagnostic Strategies, and Future Prospects. They normally range from 15–20 double-spaced pages of text without references. Clear tables with the correct mutation nomenclature are required and figures are encouraged. Mutation Updates are usually invited but the Editors welcome proposals and suggestions for topics. Authors may use Mutation Updates to publish some novel mutations/polymorphisms for the first time only if accompanied by verification of variant sequence and proof of causation (see Validation of Mutations, above). Very long tables and/or extra data can be published online as Supporting Information.

Important: Please write to the editors via the editorial office (, to suggest a topic and to receive the latest author guidelines (updated 2009).

Review Articles cover a specific topic through an appropriate literature survey. An Abstract (180-200 words) and Key Words are required. Although there are no restrictions on the number of pages or figures, the Review should be as concise as possible. Review Articles are usually invited. The Editors welcome proposals and suggestions for topics through the editorial office (


The accuracy of references is the responsibility of the authors. Only published papers and those in press may be included in the reference list. Unpublished data and submitted manuscripts must be cited parenthetically within the text. Personal communications should also be cited within the text; permission in writing from the communicator is required. References cited only in Supporting Information should still be added to the main Reference list (confirm if this is the case in a cover letter).

Citations in the text should be made by author name followed by year of publication, arranged chronologically and then alphabetically (e.g., Hershkovitz and Leipe, 1998; Jones, 2000). For three or more authors, use the first author's name and "et al." in citation. When references are made to more than one paper by the same author, published in the same year, they are to be designated as a, b, etc. in alphabetical order of the second author (e.g., Smith et al., 1998, 2000a, 2000b).

In the reference list, references are to be arranged alphabetically by author and then by year of publication. List only the first 12 authors, followed by "et al.". Journal titles should be abbreviated according to Index Medicus; the titles of unindexed journals should be spelled out in full. Examples:

Journal article

Pollin TI, Dobyns WB, Crowe CA, Ledbetter DH, Bailey-Wilson JE, Smith ACM. 1999. Risk of abnormal pregnancy outcome in carriers of balanced reciprocal translocations involving the Miller-Dieker Syndrome (MDS) Critical Region in Chromosome 17p13.3. Am J Med Genet 85:369–375.


Reece RJ. 2004. Analysis of Genes and Genomes. New York: Wiley-Liss. 469 p.

Chapter in a Book

Hunter AGW. 2005. Down syndrome. In: Cassidy SB, Allanson JE, editors. Management of Genetic Syndromes, 2e. New York: Wiley-Liss, p 191–210.

References to government publications should include the department, bureau or office, title, location of the publisher, year, pages cited, and the publication series, report, or monograph.