期刊名称：HUMAN MOLECULAR GENETICS
 期刊简介(About the journal)
投稿须知(Instructions to Authors)
编辑部信息(Editorial Board)
About the journal
Human Molecular Genetics concentrates on full-length research papers covering a wide range of topics in all aspects of human molecular genetics. These include:
- the molecular basis of human genetic disease
- developmental genetics
- cancer genetics
- neurogenetics
- chromosome and genome structure and function
- therapy of genetic disease
- stem cells in human genetic disease and therapy, including the application of iPS cells
- genome-wide association studies
- mouse and other models of human diseases
- functional genomics
- computational genomics
In addition, the journal also publishes research on other model systems for the analysis of genes, especially when there is an obvious relevance to human genetics.
Key features of the journal include:
- Articles - comprehensive reports and definitive research findings of interest to a broad audience of human molecular geneticists. We encourage inclusion of full experimental details, with as many display items (figures and tables) as required to tell the complete story.
- Review Issues - Human Molecular Genetics publishes two special review issues each year, including a themed review issue in April.
ABSTRACTING AND INDEXING SERVICES
Human Molecular Genetics is covered by the following indexing services:-
Abstracts in Anthropology
Agbiotech News and Information
Animal Breeding Abstracts
Biological Abstracts
Biotechnology Citation Index®
BIOSIS Previews
CAB Abstracts
Calcium and Calcified Tissue Abstracts
Chemical Abstracts
Current Contents® /Life Sciences
EMBASE
Genetics Abstracts
Global Health
Helminthology Abstracts
Journal Citation Reports /Science Edition
PROQUEST DATABASE : MEDLINE with Full Text
PROQUEST DATABASE : ProQuest 5000 International
PROQUEST DATABASE : ProQuest Biology Journals
PROQUEST DATABASE : ProQuest Central
PROQUEST DATABASE : ProQuest Health & Medical Complete
PROQUEST DATABASE : ProQuest Medical Library
PROQUEST DATABASE : ProQuest Pharma Collection
Science Citation Index Expanded (SciSearch®)
Science Citation Index®
The Standard Periodical Directory
Tropical Diseases Bulletin
Weed Abstracts
Instructions to Authors
New for 2010 – Please note that HMG now encourages authors to complete their copyright licence to publish form online.
OPEN ACCESS OPTION FOR AUTHORS
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, 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, understanding of genome organization and functional genomics. Mutation reports are not normally considered unless they are of demonstrated functional significance and represent documentation of mutations in newly identified genes. From October 2008, novel, high impact and technically sound association studies will be published in a new Association Studies section of the journal, edited by Joel Hirschhorn.
The association studies editor welcomes 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.
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 integrate the new disciplines of comparative genomics and proteomics with modern genetics. We encourage contributions describing computational studies that generate provocative hypotheses for directing experimental research. 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.
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
Please note: This journal does not accept Microsoft Word 2007 documents at this time. Please use Word's "Save As" option to save your document as an older (.doc) file type.
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. If you would like information about one such service please click here. There are other specialist language editing companies that offer similar services and you can also use any of these. 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.
FUNDING
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
These should be numbered in order of appearance in the text (in parentheses) and must be listed numerically in the reference list. Journal titles and author initials should be properly abbreviated and punctuated. Do not truncate page numbers i.e. type 345-349 not 345-9 or 345-49. 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. The citation of journals, books, multi-author books and articles published online should conform to the following examples:
- 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.
- Francis,V. and Bastin,M. (2000) Gene targeting in rat embryo fibroblasts promoted by the polyomavirus large T antigen. Nucleic Acids Res., in press.
- Maniatis,T., Fritsch,E.F. and Sambrook,J. (1982) Molecular Cloning: A Laboratory Manual. Cold Spring Harbor Laboratory Press, Cold Spring Harbor, NY.
- 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.
- 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
- 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
- Bernhagen, J., Elkine, B., Geiger, G., Tovar, G. and Vitzthum, F. (1999) Patent DE-198198889.2-44; PCT/WO/EP/99/03047.
For references with >11 authors, the first 10 authors should be listed, followed by et al. References of the type Smith et al. (1989) should not be used in the text. 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). 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. 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 a 17.5% 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.
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.
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@oxfordjournals.org. 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. Offprint order forms are sent out with PDF proofs and must be returned with the faxed corrections, or posted to Human Molecular Genetics, Oxford Journals, Oxford University Press, Great Clarendon Street, Oxford OX2 6DP, UK. 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.
Editorial Board
EXECUTIVE EDITORS:
EXECUTIVE EDITOR: ASSOCIATION STUDIES
EDITORIAL OFFICES
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