# Instructions to authors

Please note that HMG now encourages authors to complete their copyright licence to publish form online.

Please read these instructions carefully and follow them strictly to ensure that the review and publication of your paper is as efficient and quick as possible. The Editors reserve the right to return manuscripts that are not in accordance with these instructions.

All material to be considered for publication in Human Molecular Genetics should be submitted in electronic form via the journal's online submission system at http://mc.manuscriptcentral.com/hmg . Once you have prepared your manuscript according to the instructions below, instructions on how to submit your manuscript online can be found by clicking here.

## SCOPE

Human Molecular Genetics publishes papers of excellence, wide interest and broad significance in all aspects of human molecular genetics. The emphasis of the journal is on full research papers of any length required for concise presentation and discussion of the data. Succinct and carefully prepared papers are favoured in terms of impact as well as readability.

Areas of interest include the molecular basis of human genetic disease, genetics of polygenic diseases and traits, developmental genetics, neurogenetics, chromosome structure and function, non-coding RNA, chromatin re-modelling, molecular aspects of cancer genetics, epigenetics, stem cell biology particularly relevant to human disease - including the application of iPS cells, therapy of genetic disease, pharmacogenetics, biochemical genetics, advances in gene mapping, and functional genomics. Studies in model organisms are encouraged where they show novel insights into disease. Mutation reports are not normally considered unless they are of demonstrated functional significance and represent documentation of mutations in newly identified genes. Methodological papers are generally not considered within the scope of the journal unless the method is used to gain new biological insights or if it is obviously and immediately relevant to a broad genetics audience.

High impact and technically sound associaton studies will be published in the Association Studies section of the journal. The Association Studies section welcomes new, strongly supported associations to diseases or quantitative traits, genome-wide association studies of interesting traits or diseases in large enough sample sizes to add useful data to the existing literature, definitive replications of associations that are not yet well-established, convincing non-replications of associations with strong prior evidence of validity, or clarifications of well-studied associations where there have been ambiguous results to date. We will also welcome comprehensive exploration/fine-mapping and association testing at validated loci, extension of associated loci to previously unstudied ethnic groups that yield new insights, and studies of rare variants supported by association, segregation, and/or functional data. Compelling gene-gene and gene-environment interactions are also of interest.

For large-scale or genome-wide genetic studies, we feel that widespread availability of the complete set of results is highly desirable. Authors of manuscripts describing new genome-wide association or similar data must indicate in their cover letter whether at least a minimal set of summary results (p value and direction of effect) will be made freely available for all variants, either as supplementary material, by being publicly posted, or by being deposited in a database that is accessible to researchers with minimal restrictions on access. Making these results available will not necessarily be required in all cases for acceptance of a manuscript for publication, but the availability of results after publication will be considered in decisions regarding publication. Accordingly, authors are strongly encouraged to make available complete lists of summary statistics for large scale genetic studies.

Sequencing studies in rare diseases may at times identify a small set of candidate genes where the standards for proof of causality (such as multiple private or de novo mutations in the same gene in unrelated cases) have not been met for any individual gene. We would still consider publication of manuscripts highlighting such candidate genes if the genetic evidence is strong and is accompanied by supportive functional data. Because the purpose of publishing these sorts of manuscripts is to highlight candidate genes that could be prioritized in future studies, the manuscript should clearly state that causality has not been definitively established and that additional studies are required. Furthermore, because these studies are not definitive, the impact (and likelihood of acceptance for publication) will be increased by making the variant calls and phenotypic description available in a database in a way that will permit access by other researchers.

The molecular analysis of other organisms such as yeast, fly, worm, zebrafish or mouse is also of interest where such studies are relevant to the understanding of the function of human genes. It is editorial policy not to publish Methods papers unless they include information of substantial biological significance.

There is considerable need to use computational biology to integrate other biological data types with genetic studies. We encourage contributions describing computational studies that generate provocative hypotheses for directing experimental research, as long as there is robust independent validation (experimentally or through computational analysis of truly independent data sets) of the computational results. By providing such hypotheses through the pages of Human Molecular Genetics , computational biology will improve its impact on genetics research.

## SUBMISSION OF MANUSCRIPTS

Submission of a paper implies that it reports unpublished work and that it is not under consideration for publication elsewhere. If previously published tables, illustrations or more than 200 words of text are to be included, then the copyright holder's permission must be obtained. Copies of any such permission letters should be included with the paper. Manuscripts should be submitted to the editors via the journal's on-line submission website http://mc.manuscriptcentral.com/hmg . Manuscripts are assigned to an editorial office based on the corresponding author's geographic location.

Authors will be asked to indicate whether their paper presents new human genetic association data - evidence of association between genetic variants, individually or in aggregate, with a human disease or trait.

## USA EDITORIAL OFFICE

Authors from the Americas, Japan, China, Korea and Australia :
Email: hmg.editorialoffice@oup.com

## UK EDITORIAL OFFICE

Authors from the Rest of the World: The Editor, Human Molecular Genetics , Department of Physiology, Anatomy and Genetics, University of Oxford, Parks Road, Oxford OX1 3QX, UK. Tel: +44 1865 285880; Fax: +44 1865 285878; Email: hmgjournal@dpag.ox.ac.uk .

## REVIEW OF MANUSCRIPTS

Papers will normally be reviewed within four weeks of submission. As part of the online submission process, authors are asked to suggest the names of four potential reviewers. Due to space restrictions and to the volume of high quality papers submitted, the Editors reserve the right to return immediately those papers that are unlikely to be competitive for space in the journal and/or those that do not conform to the general editorial philosophy and standards of Human Molecular Genetics .

## PREPARATION OF MANUSCRIPTS

Prepare the manuscript text using a word processing package (save in .doc or .rtf format). Articles should be subdivided into the following sequence of sections: Title Page, Abstract, Introduction, Results, Discussion, Materials and Methods, Acknowledgements, Conflict of Interest Statement, References, Legends to Figures, Tables and, finally, Abbreviations. Figures should be saved as separate high-resolution image files. Do not include Key Words or a Running Title in the manuscript. Please avoid the use of footnotes; use instead, and as sparingly as possible, parentheses within brackets. Number the pages using the page numbering feature of the word processing software. It is recommended that authors spell-check all files before submission.

## LANGUAGE EDITING

Particularly if English is not your first language, before submitting your manuscript you may wish to have it edited for language. This is not a mandatory step, but may help to ensure that the academic content of your paper is fully understood by journal editors and reviewers. Language editing does not guarantee that your manuscript will be accepted for publication. Authors are liable for all costs associated with such services.

## TITLE PAGE

The title should be short, specific and informative. The first name, initial(s), and surname of each author should be followed by his or her department, institution, city with postcode, and country. The fax, telephone number and Email address of the corresponding author should also be provided. With an understanding that genetics and genomics research is highly collaborative, it is certainly possible to list co-first or co-corresponding authors on the manuscript. For the purposes of communication with the Journal staff during submission, review, revision and publication, only one author is designated as the Corresponding Author. Any changes of address may be given in footnotes. A footnote stating 'The authors wish it to be known that, in their opinion, the first x authors should be regarded as joint First Authors' is permitted. Any deletions or additions to the author list after acceptance of the paper must be submitted in writing, signed by all authors, to the appropriate editorial office. New sequence accession numbers (DDBJ/EMBL/GenBank) should be listed on the title page.

## ABSTRACT

The second page of the manuscript should contain the Abstract, which must not exceed 250 words. The Abstract should be comprehensible to readers before they have read the paper, and reference citations must be avoided. It is essential that the Abstract clearly states the biological importance of the work described in the paper.

## MATERIALS AND METHODS

Names of suppliers should be given for materials used. Details of centrifugation should be given in g where possible; if centrifugation is given in r.p.m., the rotor must be specified.

Authors must include full structural details of compounds used, or refer to external sources where the structure is described.

## MICROARRAY DATA

All authors must comply with the 'Minimal Information About a Microarray Experiment' (MIAME) guidelines published by the Microarray Gene Expression Data Society, which can be found at http://www.mged.org/Workgroups/MIAME/miame_checklist.html . HMG also requires submission of microarray data to the GEO ( http://www.ncbi.nlm.nih.gov/geo/ ) or ArrayExpress ( http://www.ebi.ac.uk/arrayexpress/ ) databases, with accession numbers at or before acceptance for publication.

## GENES / DISEASES

All manuscripts must include HGNC-approved gene symbols and OMIM reference numbers for disorders.

Describing variants

Because of the importance of the issue and the overall consensus on the rules, we have adopted an editorial policy that encourages compliance with the rules to describe sequence variants before manuscripts will be accepted and published (den Dunnen & Antonarakis, 2000, Hum.Mutat 15:7). The most current guidelines are summarized on the website of the Human Genome Variation Society . 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.
- authors should always include the GenBank Accession Number of
the relevant reference gene sequence(s) used (e.g.: RefSeq
NG_123456.2, NM_987654.3 or GenBank U654321.1), in the Materials and Methods section and as a footnote in tables listing mutations.

Acceptance and/or publication will be delayed when authors do not follow the guidelines properly. Authors are advised to check sequence variant descriptions using software tools (e.g. http://www.mutalyzer.nl/ using batch mode, all variants can be analyzed at once).

Data submission

We support the recommendations of the Human Variome Project (Cotton RGH et al. 2007. Nat Genet. 39: 433, http://www.nature.com/ng/journal/v39/n4full/ng2024.html).

Consequently, authors are required to submit all variants included in an article to a public database, preferably a gene variant database (LSDB), prior to acceptance.

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 database(s) to which they have submitted their variants and provide the URL. We encourage the use of widely accessible genetics databases as repositories for human gene mapping information, including loci (genes, fragile sites, DNA segments), and probes. Links to gene variant databases can be obtained from the Human Genome Variation Society web site ( http://www.hgvs.org/ ) or using the url
"GeneSymbol".lovd.nl (e.g. TP53.lovd.nl).

## FUNDING

Crossref Funding Data Registry
In order to meet your funding requirements authors are required to name their funding sources, or state if there are none, during the submission process. For further information on this process or to find out more about the CHORUS initiative please click here .

Details of all funding sources for the work in question should be given in a separate section entitled 'Funding'. This should appear before the 'Acknowledgements' section.

The following rules should be followed:

• The sentence should begin: ‘This work was supported by …’
• The full official funding agency name should be given, i.e. ‘National Institutes of Health’, not ‘NIH’ (full RIN-approved list of UK funding agencies) Grant numbers should be given in brackets as follows: ‘[grant number xxxx]’
• Multiple grant numbers should be separated by a comma as follows: ‘[grant numbers xxxx, yyyy]’
• Agencies should be separated by a semi-colon (plus ‘and’ before the last funding agency)
• Where individuals need to be specified for certain sources of funding the following text should be added after the relevant agency or grant number 'to [author initials]'.

An example is given here: ‘This work was supported by the National Institutes of Health [AA123456 to C.S., BB765432 to M.H.]; and the Alcohol & Education Research Council [hfygr667789].’

## REFERENCES

1. These should be numbered in order of appearance in the text (in parentheses) and must be listed numerically in the reference list.

2. Journal titles and author initials should be properly abbreviated and punctuated. Abbreviate and italicize all journal titles. Punctuate ALL abbreviated words in journal titles, i.e. Hum. Mol. Genet. NOT Hum Mol Genet. Use proper spacing between author names and initials.

3. Type complete page numbers i.e. 345-349 NOT 345-9 or 345-49.

4. Volume number should be keyed in boldface.

5. Do not use issue numbers.

6. List 10 authors before adding et al.

7. Use commas (,) not colons (:) in the references.

8. Article titles of references are required.

9. If you use EndNote to facilitate referencing citations (not required for submission), this journal's style is available for use. However, if you are using an old version of EndNote (x6 and before) you will need to download the latest style from the EndNote style website: http://endnote.com/styles/Human%20Mol%20Genetics.ens .

10.If an automatic referencing system has been used in the preparation of the paper, the references must not be left embedded in the final text file submitted.

11. The citation of journals, books, multi-author books and articles published online should conform to the following examples:

1. Gorecki,D.C., Monaco,A.P., Derry,J.M.J., Walker,A.P., Barnard,E.A. and Barnard,P.J. (1992) Expression of four alternative dystrophin transcripts in brain regions regulated by different promoters. Hum. Mol. Genet. , 1 , 505-511.
2. Francis,V. and Bastin,M. (2000) Gene targeting in rat embryo fibroblasts promoted by the polyomavirus large T antigen. Nucleic Acids Res. , in press.
3. Maniatis,T., Fritsch,E.F. and Sambrook,J. (1982) Molecular Cloning: A Laboratory Manual . Cold Spring Harbor Laboratory Press, Cold Spring Harbor, NY.
4. Huynh,T.V., Young,R.A. and Davis,R.W. (1988) DNA Cloning. In Glover,D.M. (ed.), DNA Cloning - A Practical Approach . IRL Press, Oxford, UK, Vol. 1, pp. 49-78.
5. Qiao, D., Chen, W., Stratagoules, E. and Martinez, J. (May 19, 2000) Bile acid-induced activation of activator protein-1 requires both extracellular signal-regulated kinase and protein kinase C signaling. J. Biol. Chem. , 10.1074/jbc.M908890199
6. Qiao, D., Chen, W., Stratagoules, E. and Martinez, J. (2000) Bile acid-induced activation of activator protein-1 requires both extracellular signal-regulated kinase and protein kinase C signaling. J. Biol. Chem. , 275 , 15090-15098. First published on May 19, 2000, 10.1074/jbc.M908890199
7. Bernhagen, J., Elkine, B., Geiger, G., Tovar, G. and Vitzthum, F. (1999) Patent DE-198198889.2-44; PCT/WO/EP/99/03047.

12. References of the type Smith et al. (1989) should not be used in the text.

13. Personal communications (J.Jones, personal communication) must be authorized in writing by those involved, and unpublished data should be cited in the text as (unpublished data).

14. References to manuscripts submitted, but not yet accepted, should be cited in the text as (B.Jones and L.Smith, manuscript in preparation) and should not be included in the list of references.

15. Citations of submitted manuscripts should include all authors involved. Authors are encouraged to cite web URLs in parentheses at the appropriate mention in the text.

## ILLUSTRATIONS

Figures should be saved as separate high-resolution image files without their captions (captions should be included with the text of the article). Minimum resolutions are 300 d.p.i. for colour or tone images, and 600 d.p.i. for line drawings. The preferred format is TIFF. Colour figures should be supplied in CMYK not RGB colours. Font-related problems can be avoided by using standard fonts such as Times Roman and Helvetica.

Wherever possible, figures should be submitted in their desired final size, to fit the width of a single column of text (86 mm) or a double column of text (180 mm), and to a maximum depth of 200 mm, thereby allowing space for the figure caption. Any lettering should be approximately 2 mm in height and should be in proportion to the overall dimensions of the figure. Photographs should be of sufficiently high quality with respect to detail, contrast and fineness of grain to withstand the inevitable loss of contrast and detail inherent in the printing process. Line drawings should have clear and sharp lines. Shading used on line drawings should be clear and distinctive; shades of grey will not reproduce well and small patches of white on an otherwise black background are likely to be lost on reproduction. Symbols used in figures should be limited to standard open and closed symbols (circles, squares, triangles, diamonds). Symbols cannot be generated in the legend and should be described rather than indicated by a symbol. Figures and legends should be intelligible without reading the text of the manuscript.

As part of the online submission process, authors agree to pay colour figure charges of £350 or $600 per colour figure submitted. Figures submitted in colour will therefore be reproduced in colour and authors will be responsible for the colour figures charges. Please note that changes to figures after acceptance and during proof stage will not be allowed without permission from the Editors. Such changes may result in additional charges and/or delays in publication of manuscripts. Orders from UK will be subject to the current UK VAT charge. For orders from the rest of the EU, we will assume that the service is provided for business purposes, please provide a VAT number for yourself or your institution and ensure you account for your own local VAT correctly. ## ACKNOWLEDGEMENTS These should be included at the end of the text, before the reference list; not in footnotes or on the title page. Personal acknowledgements should precede those of institutions and agencies. Financial support for the work should be listed here. ## CONFLICTS OF INTEREST At the point of submission, HMG’s policy requires that each author reveal any financial interests or connections, direct or indirect, or other situations that might raise the question of bias in the work reported or the conclusions, implications, or opinions stated - including pertinent commercial or other sources of funding for the individual author(s) or for the associated department(s) or organization(s), personal relationships, or direct academic competition. When considering whether you should declare a conflicting interest or connection please consider the conflict of interest test: Is there any arrangement that would embarrass you or any of your co-authors if it was to emerge after publication and you had not declared it? As an integral part of the online submission process, Corresponding authors are required to confirm whether they or their co-authors have any conflicts of interest to declare, and to provide details of these. If the Corresponding author is unable to confirm this information on behalf of all co-authors, the authors in question will then be required to submit a completed Conflict of Interest form to the Editorial Office. It is the Corresponding author’s responsibility to ensure that all authors adhere to this policy. If the manuscript is published, Conflict of Interest information will be communicated in a statement in the published paper. ## AUTHOR SELF-ARCHIVING/PUBLIC ACCESS POLICY For information about this journal's policy, please visit our http://www.oxfordjournals.org/access_purchase/self-archiving_policyb.html . ## ABBREVIATIONS Try to restrict the use of abbreviations to SI symbols and those recommended by the IUPAC. Abbreviations, used for copy editing purposes only, should be defined and listed on a page separate from the body of the manuscript. Standard units of measurement and chemical symbols of elements may be used without definition within the body of the paper. Acronyms formed from phrases are unacceptable. ## CONVENTIONS AND NOMENCLATURE In general, the Journal follows the conventions of the CBE Style Manual (Council of Biology Editors, Bethesda, MD, 1983, 5th edn). Follow Chemical Abstracts and its indexes for chemical names. For guidance in the case of biochemical terminology follow the recommendations issued by the IUPAC-IUB Commission on Biochemical Nomenclature, as given in Biochemical Nomenclature, published by the Biochemical Society, UK. For human genes, use genetic notation and symbols approved by the HUGO Nomenclature Committee. Approved gene symbols should be obtained prior to submission from the HUGO Nomenclature Committee, nome@galton.ucl.ac.uk. For nomenclature guidelines, see White et al. , 'Guidelines for Human Gene Nomenclature' [ Genomics , 45 , 468-471 (1997)]. The Gene Name Proposal form may be completed on the Nomenclature Web page: http://www.gene.ucl.ac.uk/nomenclature . Use ISCN nomenclature for cytogenetics notation [Mitelman, F. (ed.) ISCN 1995: An International System for Human Cytogenetic Nomenclature, S. Karger, Basel]. Human gene names and loci should be written in uppercase italics and Arabic numerals. Protein products are not italicized. For mouse strain and genetic nomenclature, refer to the International Committee on Standardized Genetic Nomenclature for Mice: http://www.informatics.jax.org/nomen/ . New symbols and names for genes should be obtained prior to submission through the online symbol registry form at: http://www.informatics.jax.org/nomen/nomen_submit_form.shtml . ## ACCESSION NUMBERS Authors should be aware that all new sequence information, including that which extends a previously determined sequence already present in the database (and which already has an accession number), must be submitted to any of the three major collaborative databases - DDBJ ( http://www.ddbj.nig.ac.jp ), EMBL ( http://www.ebi.ac.uk ), GenBank ( http://www.ncbi.nlm.nih.gov ) - for a new accession number. It is only necessary to submit to one database, without regard to where the sequence data will be published. Data are exchanged between DDBJ, EMBL and GenBank on a daily basis. This number must be provided before acceptance of the manuscript. Accession numbers from the major collaborative databases should be cited in the text as (GenBank accession no. AF149731). Other databases should be identified where used. Accession numbers should be listed on the title page. ## SUPPLEMENTARY MATERIAL Only directly relevant experimental data should be included in the full text of manuscripts. Supporting data should be submitted for review as supplementary material, in a separate file from the manuscript, for publication online only. Material that has not been peer-reviewed will be made available only through a link to the author's home page, at the discretion of the Editor. Supplementary Material can be published in these formats: .txt, .htslp, .shtml, .html, .htm, .jpg, .jpeg, .gif, .mov, .mpg, .avi, .pdf, .xls, .zip, .doc, .rtf, .tif, .dtl. ## REVISED MANUSCRIPTS Revised manuscripts must normally be submitted within four weeks of the author's receipt of the referees' reports. Depending on the extent of the revisions, revised manuscripts returned after four weeks may be considered as new submissions subject to re-review. Revised manuscript files should be submitted via the journal's online submission website where a slot for the paper has been already created. Label the file with the manuscript number and first author last name. Additionally, authors will be required to fax the Conflict of Interest form (see Conflicts of Interest) to the appropriate Editorial Office. ## ACCEPTED MANUSCRIPTS Once a manuscript has been accepted, please direct all correspondence to: Human Molecular Genetics, Oxford Journals, Oxford University Press, Great Clarendon Street, Oxford OX2 6DP, UK. Tel: +44 (0)1865 354489; Fax: +44 (0)1865 353829; Email: hmg@oup.com. Upon receipt of accepted manuscripts at Oxford Journals authors will be invited to complete an online copyright licence to publish form. Copies of any necessary permission letters from the copyright holders of previously published tables, figures or text should immediately be faxed to Oxford Journals and then the original(s) must be express mailed to Oxford Journals. ## HMG ADVANCE ACCESS HMG Advance Access is the journal's system for the early online publication of articles ahead of the printed issue. Manuscripts are published online as soon as possible after they have been accepted, with updates on a weekly basis. In order to achieve this rapid publication time, the accepted manuscript is published online before copyediting and formatting has been carried out, this version is indicated by the text 'Accepted Manuscript'. A second copyedited, typeset, corrected version is then also published online ahead of print, this version is indicated by the text 'Corrected Proof'. Appearance in Advance Access constitutes official publication, and the Advance Access version can be cited by a unique doi (digital object identifier). Both versions of the paper continue to be accessible and citable after the final version is published as part of the issue. ## OFFPRINTS The Journal will provide the authors with free online access to their article, with the option of purchasing printed offprints using the Oxford Journals Author Services site. Late orders submitted after the Journal has been printed are subject to increased prices. ## POLICY It is understood that by publishing a paper in Human Molecular Genetics, the authors agree to make available to colleagues in academic (non-profit) research any of the cells, nucleic acids, antibodies, etc. that are not available from commercial suppliers and are required to substantiate the scientific conclusions of the paper. ## COPYRIGHT Copyright of any article published in HMG will belong to the author or their designee. However, it is a condition of publication in the journal that authors grant an exclusive licence to publish to Oxford University Press. This ensures that requests from third parties to reproduce articles are handled efficiently and consistently and allows the article to be as widely disseminated as possible. As part of the licence agreement, authors may use their own material in other publications provided that the Journal is acknowledged as the original place of publication and Oxford University Press as the Publisher. Upon receipt of accepted manuscripts at Oxford Journals authors will be invited to complete an online copyright licence to publish form. Authors are reminded that it is their responsibility to comply with copyright laws. It is essential to ensure that no part of the text or illustrations have appeared or are due to appear in other publications, without prior permission from the copyright holder. Signed patient consent forms must be obtained for recognizable photographs. Submission of the manuscript will be taken to indicate the authors compliance with these conditions. ## PROOFS Authors will receive a PDF file of the complete paper by email. In the interest of speed, corrections must be returned within 48 hours. ## OPEN ACCESS OPTION FOR AUTHORS HMG authors have the option to publish their paper under the Oxford Open initiative; whereby, for a charge, their paper will be made freely available online immediately upon publication. After your manuscript is accepted the corresponding author will be required to accept a mandatory licence to publish agreement. As part of the licensing process you will be asked to indicate whether or not you wish to pay for open access. If you do not select the open access option, your paper will be published with standard subscription-based access and you will not be charged. Oxford Open articles are published under Creative Commons licences. Authors publishing in HMG can use the following Creative Commons licences for their articles: • Creative Commons Attribution licence (CC BY) • Creative Commons Non-Commercial licence (CC BY-NC) Please click here for more information about the Creative Commons licences. Please note that these charges are in addition to any colour/page charges that may apply. You can pay Open Access charges using our Author Services site. This will enable you to pay online with a credit/debit card, or request an invoice by email or post. The open access charges applicable are: Regular charge - £1850/$3000 / €2450
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