Your Paper Your Way
We now differentiate between the requirements for new and revised submissions. You may choose to submit your manuscript as a single Word or PDF file to be used in the refereeing process. Only when your paper is at the revision stage, will you be requested to put your paper in to a 'correct format' for acceptance and provide the items required for the publication of your article.
To find out more, please visit the Preparation section below.
Type of manuscript
The following categories of articles can be proposed to European Journal of Medical Genetics:
- Editorial comments: These manuscripts are solicited by the Editors.
- Reviews: Authors are advised to discuss review proposals with the Editors before submitting it. There is no specific format for reviews.
- Experimental research: Results of experimental investigations related to medical genetics, such as cell biology and animal models of human disorders, technology-oriented research, bioinformatics research... In experimental research articles, the experimental data are the most important elements of the work. See template below.
- Clinical research: Results of original works on any aspects of Medical Genetics, including:
- delineation of new syndromes with demonstrated genetic, genomic or exogen cause
- reports of series of patients
- reports on biochemical, genetic, genomic or cytogenetics data in relation with patients, including results from array studies and of next generation sequencing
- exome based studies with functional data
- genetic epidemiology or association studies for genetic disorders and developmental anomalies.
- Clinical Reports: Report of significant new findings in a single patient, a single pedigree, or a small series of patients with a known disorder. Not including the title, list of authors, affiliations and figures, the manuscript must not exceed fifteen manuscript pages (600 lines) including legends, tables and a maximum of 25 references.
- Exome Reports present abnormal exome sequence results usually found in a single pedigree (trio or sibship), with their associated clinical data, including cases for which functional studies are not possible. An Exome Report typically covers:
- patients with well described, recognizable phenotype (known entities or "new" syndromes) and one or several candidate sequence variations predicted to be pathogenic;
- patients with a known clinical diagnosis yet unexpected NGS results
The main goal of this section is to allow rapid dissemination of possible genotype-phenotype correlations without the necessity to have strong functional evidences, or to wait for data replication. We ask all authors to provide a list of pathogenic variants when they submit their Exome Report manuscript. See specific template for Exome Report below.Authors simply fill out the Exome Report template and submit directly to EJMG.
Genetic forum: The manuscripts of this section may address the practice of medical genetics, and all its correlates: ethics, social issues, organization, perspectives... There is no specific format for Genetic forum articles. Letter to the Editor: Letter to Editor provides a mean of communication between the authors and readers. Although not original research per se, a Letter may provide new insight, make corrections, offer alternate theories, or request clarification about content printed in the journal. An author can answer to a Letter by the same mean. Data in Brief: Alternatively, authors may convert any or all parts of their supplementary data into one or multiple Data in Brief articles, a new kind of article that houses and describes their data. Data in Brief articles ensure that your data, which is normally buried in supplementary material, is actively reviewed, curated, formatted, indexed, given a DOI and publicly available to all upon publication. You can submit your Data in Brief directly alongside your research article submission (either initially or at the revision stage). For patient photos: Recognizable facial pictures: the author MUST download this form (HERE) and submit it with their manuscript.
Protection of privacy and consent for identifiable facial picturesIf your submission contains ANY identifiable patient images or other protected health information, a written statement signed by the corresponding author and/or the first author MUST be provided, indicating that you have collected permission from the patient (or a patient's parent or guardian) for the material to be published unmasked. The statement must be supplied as supplementary material and uploaded with the submission. The consent form must be stored in author's files. It should be made available to Elsevier in case of complaints. In the absence of documented permission, the patient's identity must be protected by blocking out facial features appropriate to the submission. For further information see http://www.elsevier.com/patientphotographs.
Do not upload copies of the consents themselves to the web site.General organization of a manuscript
EJMG manuscripts generally contain the following sections, in this order. The manuscript must be provided as one single wordprocessor document:
- Title page: it containts a concise title, the list of contributors, identification of each contributor's affiliation, a running title of no more than 45 characters including spaces, and the name and coordinates of the corresponding author
- Main Text: in articles, it is divided by several headings and subheadings:(see below for templates specific to each type of manuscript)
- Web Resources (if any) : URLs of any web-based resource (e.g., database, online computer program, etc.) mentioned in the main text. URLs are never included in the main text.
- Accession numbers (if any)
- Figure Titles and Legends
- Tables (with a title and legend for each).
- Supplemental data description (if any): a list of the titles of each file included submitted as Supplemental Data (this section do not include the supplemental data themselves).
Contact details for submissionManuscripts should be submitted via the journals online submission page at http://ees.elsevier.com/ejmg/.
For general queries, please refer to the support web page at service.elsevier.com.
For queries on the review process, please contact the Editor-in-Chief, Dr. Alain (A.) Verloes, at EJMG.email@example.com. Ethics in publishing
Please see our information pages on Ethics in publishing and Ethical guidelines for journal publication.
Submission of an article implies that the work described has not been published previously (except in the form of an abstract or as part of a published lecture or academic thesis), that it is not under consideration for publication elsewhere, that its publication is approved by all authors and tacitly or explicitly by the responsible authorities where the work was carried out, and that, if accepted, it will not be published elsewhere in the same form, in English or in any other language, including electronically without the written consent of the copyright-holder. To verify originality, your article may be checked by the originality detection software iThenticate. See also: Conflict of interest
European Journal of Medical Genetics follows the ICMJE recommendations regarding conflict of interest disclosures. All authors are required to report the following information with each submission: (1) All third-party financial support for the work in the submitted manuscript. (2) All financial relationships with any entities that could be viewed as relevant to the general area of the submitted manuscript. (3) All sources of revenue with relevance to the submitted work who made payments to you, or to your institution on your behalf, in the 36 months prior to submission. (4) Any other interactions with the sponsor of outside of the submitted work should also be reported. (5) Any relevant patents or copyrights (planned, pending, or issued). (6) Any other relationships or affiliations that may be perceived by readers to have influenced, or give the appearance of potentially influencing, what you wrote in the submitted work. As a general guideline, it is usually better to disclose a relationship than not. This information will be acknowledged at publication in a Transparency Document link directly in the article. Additional information on the ICMJE recommendations can be found at: http://www.icmje.org/. The form for conflict of interest disclosure can be downloaded here: http://www.icmje.org/coi_disclosure.pdf (if this link does not display properly in your browser, please right-click the link and select "Save Target As..." or "Save Link as..." from the pop-up menu).
Submission of an article implies that the work described has not been published previously (except in the form of an abstract or as part of a published lecture or academic thesis or as an electronic preprint, see https://www.elsevier.com/sharingpolicy), that it is not under consideration for publication elsewhere, that its publication is approved by all authors and tacitly or explicitly by the responsible authorities where the work was carried out, and that, if accepted, it will not be published elsewhere including electronically in the same form, in English or in any other language, including electronically without the written consent of the copyright-holder. To verify originality, your article may be checked by the originality detection software iThenticate. See also: http://www.elsevier.com/editors/plagdetect.
Authors are expected to consider carefully the list and order of authors before submitting their manuscript and provide the definitive list of authors at the time of the original submission. Any addition, deletion or rearrangement of author names in the authorship list should be made only before the manuscript has been accepted and only if approved by the journal Editor. To request such a change, the Editor must receive the following from the corresponding author: (a) the reason for the change in author list and (b) written confirmation (e-mail, letter) from all authors that they agree with the addition, removal or rearrangement. In the case of addition or removal of authors, this includes confirmation from the author being added or removed.
Only in exceptional circumstances will the Editor consider the addition, deletion or rearrangement of authors after the manuscript has been accepted. While the Editor considers the request, publication of the manuscript will be suspended. If the manuscript has already been published in an online issue, any requests approved by the Editor will result in a corrigendum.
Upon acceptance of an article, authors will be asked to complete a 'Journal Publishing Agreement' (see more information on this). An e-mail will be sent to the corresponding author confirming receipt of the manuscript together with a 'Journal Publishing Agreement' form or a link to the online version of this agreement.
For open access articles: Upon acceptance of an article, authors will be asked to complete an 'Exclusive License Agreement' (more information). Permitted third party reuse of open access articles is determined by the author's choice of user license.Author rights
As an author you (or your employer or institution) have certain rights to reuse your work. More information.
Elsevier supports responsible sharing
Find out how you can share your research published in Elsevier journals.
You are requested to identify who provided financial support for the conduct of the research and/or preparation of the article and to briefly describe the role of the sponsor(s), if any, in study design; in the collection, analysis and interpretation of data; in the writing of the report; and in the decision to submit the article for publication. If the funding source(s) had no such involvement then this should be stated.
Funding body agreements and policies
Elsevier has established a number of agreements with funding bodies which allow authors to comply with their funder's open access policies. Some funding bodies will reimburse the author for the Open Access Publication Fee. Details of existing agreements are available online.
This journal offers authors a choice in publishing their research:
• Articles are freely available to both subscribers and the wider public with permitted reuse.
• An open access publication fee is payable by authors or on their behalf, e.g. by their research funder or institution.
• Articles are made available to subscribers as well as developing countries and patient groups through our universal access programs.
• No open access publication fee payable by authors.
For open access articles, permitted third party (re)use is defined by the following Creative Commons user licenses:Creative Commons Attribution (CC BY)
Lets others distribute and copy the article, create extracts, abstracts, and other revised versions, adaptations or derivative works of or from an article (such as a translation), include in a collective work (such as an anthology), text or data mine the article, even for commercial purposes, as long as they credit the author(s), do not represent the author as endorsing their adaptation of the article, and do not modify the article in such a way as to damage the author's honor or reputation.
Creative Commons Attribution-NonCommercial-NoDerivs (CC BY-NC-ND)
For non-commercial purposes, lets others distribute and copy the article, and to include in a collective work (such as an anthology), as long as they credit the author(s) and provided they do not alter or modify the article.
The open access publication fee for this journal is USD 3000, excluding taxes. Learn more about Elsevier's pricing policy: http://www.elsevier.com/openaccesspricing.
Authors can share their research in a variety of different ways and Elsevier has a number of green open access options available. We recommend authors see our green open access page for further information. Authors can also self-archive their manuscripts immediately and enable public access from their institution's repository after an embargo period. This is the version that has been accepted for publication and which typically includes author-incorporated changes suggested during submission, peer review and in editor-author communications. Embargo period: For subscription articles, an appropriate amount of time is needed for journals to deliver value to subscribing customers before an article becomes freely available to the public. This is the embargo period and it begins from the date the article is formally published online in its final and fully citable form.
This journal has an embargo period of 12 months.
Elsevier Publishing Campus
The Elsevier Publishing Campus (www.publishingcampus.com) is an online platform offering free lectures, interactive training and professional advice to support you in publishing your research. The College of Skills training offers modules on how to prepare, write and structure your article and explains how editors will look at your paper when it is submitted for publication. Use these resources, and more, to ensure that your submission will be the best that you can make it.
Please write your text in good English (American or British usage is accepted, but not a mixture of these). Authors who feel their English language manuscript may require editing to eliminate possible grammatical or spelling errors and to conform to correct scientific English may wish to use the English Language Editing service available from Elsevier's WebShop.
Informed consent and patient details
Studies on patients or volunteers require ethics committee approval and informed consent, which should be documented in the paper. Appropriate consents, permissions and releases must be obtained where an author wishes to include case details or other personal information or images of patients and any other individuals in an Elsevier publication. Written consents must be retained by the author and copies of the consents or evidence that such consents have been obtained must be provided to Elsevier on request. For more information, please review the Elsevier Policy on the Use of Images or Personal Information of Patients or other Individuals. Unless you have written permission from the patient (or, where applicable, the next of kin), the personal details of any patient included in any part of the article and in any supplementary materials (including all illustrations and videos) must be removed before submission.
Our online submission system guides you stepwise through the process of entering your article details and uploading your files. The system converts your article files to a single PDF file used in the peer-review process. Editable files (e.g., Word, LaTeX) are required to typeset your article for final publication. All correspondence, including notification of the Editor's decision and requests for revision, is sent by e-mail.
Please submit the names and institutional e-mail addresses of several potential referees. For more details, visit our Support site. Note that the editor retains the sole right to decide whether or not the suggested reviewers are used.
Submission to this journal proceeds totally online and you will be guided stepwise through the creation and uploading of your files. The system automatically converts your files to a single PDF file, which is used in the peer-review process.
Please note that individual figure files larger than 10 MB must be uploaded separately. It is important that the file be saved in the native format of the word processor used. The electronic text should be prepared in a way very similar to that of conventional manuscripts (see also the Guide to Publishing with Elsevier: http://www.elsevier.com/guidepublication ).
There are no strict formatting requirements, but we recommend to use whenever possible the formatting rules that are described below. To avoid unnecessary errors you are strongly advised to use the 'spell-check' and 'grammar-check' functions of your word processor.
Figures and tables embedded in text
Please ensure the figures and the tables included in the single file are placed next to the relevant text in the manuscript, rather than at the bottom or the top of the file.
It is important that the file be saved in the native format of the wordprocessor used. The text should be in single-column format. Keep the layout of the text as simple as possible. Most formatting codes will be removed and replaced on processing the article. In particular, do not use the wordprocessor's options to justify text or to hyphenate words. However, do use bold face, italics, subscripts, superscripts etc. When preparing tables, if you are using a table grid, use only one grid for each individual table and not a grid for each row. If no grid is used, use tabs, not spaces, to align columns. The electronic text should be prepared in a way very similar to that of conventional manuscripts (see also the Guide to Publishing with Elsevier: http://www.elsevier.com/guidepublication). Note that source files of figures, tables and text graphics will be required whether or not you embed your figures in the text. See also the section on Electronic artwork.
Use of word processing software
Regardless of the file format of the original submission, at revision you must provide us with an editable file of the entire article. Keep the layout of the text as simple as possible. Most formatting codes will be removed and replaced on processing the article. The electronic text should be prepared in a way very similar to that of conventional manuscripts (see also the Guide to Publishing with Elsevier). See also the section on Electronic artwork.
To avoid unnecessary errors you are strongly advised to use the 'spell-check' and 'grammar-check' functions of your word processor.
Ethical compliance for human and animal experimentation
For all manuscript involving prospective experimentation, the manuscript must confirm that the reported works performed on human subjects complies with standards established by an appropriate ethics review committee and that the research was prospectively reviewed and approved by an ad hoc committee.
Description of genes and proteins must fit with to the official HGNC (HUGO nomenclature committee) gene symbols. Typographic rules for gene and protein symbols: human gene symbols are italicized, with all letters in uppercase (e.g., SHH, for sonic hedgehog) and follow the HUGO Gene Nomenclature Committee guidelines. Protein designations are not italicized and all letters are in uppercase (SHH). For other model organisms, refer to species-specific nomenclature standards. See Wain HM et al. Guidelines for Human Gene Nomenclature. Genomics 2002, 79:464- 470. Cytogenetic variations are reported following the most recent International System for Human Cytogenetic Nomenclature (ISCN 2013) . Always mention the reference genome when reporting array data with nucleotide positions. All mutations and variations must be described at DNA-level. When descriptions at RNA or protein level are given in the text, including Title and Abstract. All mutations and variations must be reported in accordance with the online recommendations of the Human Genome Variation Society (HGVS). Upon first mention, a format like "c.78G>C (p.Trp26Cys)" should be used. Basic rules are :
- Genomic DNA-level : always use the g. prefix (example: g.476A>T) . If you present personal data, always mention the genome of reference (example: GRCh37 or Hg19 ) .
- Coding DNA-level : always use the c. prefix (example: c.76A>T). For personal data, the DNA reference sequence from the RefSeq database must be mentioned with both database accession and version number (example: NM_001199954.1).
- protein level: always use the p. prefix and three letter AA code (example: p.Lys76Asn) . Descriptions at protein level may only be given in addition to a description at DNA level. Genbank protein reference sequence must be mentioned (example: AAA51567.1 or NP_001186883.1 ) Mention clearly in the text when the description at protein level is given without any experimental evidence ( i.e. no RNA nor protein analysis). Alternatively, in absence of experimental evidence, you may use HGVS recommendation and describe protein variation between brackets, for example: p.(Arg22Ser).
See detailed recommendations in Taschner and Den Dunnen, Hum Mutat 2011 32:507-511. and the updates on HGVS website.Descriptive terminology for dysmorphology
If the manuscript reports specific morphological features of human subjects or other developemental anomalies, authors should use the Human Phenotype Ontology (HPO) which provides a structured, comprehensive and well-defined set of descriptors. Alternatively, for craniofacial features, hands and/or feet, the authors may use the Elements of Morphology: Standard Terminology (Am J Med Genet 2009, 149A (1) : 1-127).
Dissemination of information
Rare/unreported chromosomal aberrations detected by array technologies, should be entered whenever possible in one of the existing databases for chromosomal aberrations (for instance: DECIPHER, ISCA or ECARUCA ). Please mention the accession number in your manuscript. Entering gene variations in one of the existing databases prior to acceptance is mandatory. Most database include a possibility to submit result and to keep them hidden till publication of the article, allowing mutation to remain confidential during reviewing process. ECARUCA has a web site : http://umcecaruca01.extern.umcn.nl:8080/ecaruca/ecaruca.jsp
All sequence variations should be submitted to a general database (for example: Clinvar, dbSNP) or to a locus-specific database. Directories of locus-specific databases are available at HGVS or LSDB).This submission is necessary for novel and for confirmatory data : it is important that all unpublished data is submitted to public databases. The manuscript should indicate to which public database the data of the study were submitted, and include i, when possible, the accession numbers. The information must be inserted in the Results section. Numerous variations can be listed in a separate section entitled "Accession Numbers", in a text or in a Table, at the end of the manuscript.
Manuscript are typed with 11 or 12 fonts, with double spaced lines. Pages must be numbered. Lines are not numbered (this will be done automatically when the pdf submission is created).
Headings and subheadings : use caps letters only when necessary (first letter of the title, first letter of family names, acronyms and other commonly accepted abbreviations. You may use bigger or bold font for readability.Headings and subheadings are not numbered
Figures and Tables are consecutively numbered in Arabic numerals, following the order of appearance in the text, and should be referred to in the text by their number (Fig. 1; Table 1).Style preferences: the preferred spelling for a word is its American usage. English usage is acceptable but must be consistent in the manuscript.
Units of measurement: all measurements should be in metric or other internationally accepted units. Leave a space between numbers and units (10 cm, not 10cm)Abbreviations: a definition should be provided between brackets when unusual abbreviations are used. Authors and affiliation
First forename is given in extenso, followed if necessary by the initials of other forenames, and by the family name. When there is more than one affiliation, the author's family name is followed by one or several superscript letters indicating their affiliation (John R. Doe a,b, …). Degrees or titles are not mentioned. The superscript letters do not have to be sequentially ordered, to allow more structured affiliation section (see next paragraph).
The affiliation of the first author(where the actual work was done) is always the first to appear (a superscript). To reduce localization redundancies, when several affiliations are mentioned, they can be grouped and ordered on a topographic basis and then numbered sequentially with superscript letters (exemple : aDepartments of genetics, and bobstetrics and ccytogenetics units, University Hospital HHH, City YYY ; Departments of dgenetics and epediatrics, Regional General Hospital XYZ, City ZZZ, [State or Region], Country AAA; etc. Each affiliation appears on a separate line. When successive lines refer to affiliations in the same city, or the same region/country, the city and the region/country are mentioned only in the last line.Present/permanent address. If an author has moved since the work described in the article was done, or was visiting at the time, a 'Present address' (or 'Permanent address') may be indicated as a footnote to that author's name. The address at which the author actually did the work must be retained as the main, affiliation address. Superscript Arabic numerals are used for such footnotes.
Corresponding author. Clearly indicate who will handle correspondence at all stages of refereeing and publication, also post-publication. Ensure that telephone and fax numbers (with country and area code) are provided in addition to the e-mail address and the complete postal address. Contact details must be kept up to date by the corresponding author.Abstract
The abstract presents the summary of the article. It is made of a single paragraph, and do not contain abbreviations (except for those of common and generalized use: CGH, PCR, DNA …). An abstract is often presented separately from the article, so it must be able to stand alone. For this reason, References should be avoided, but if essential, then cite the author(s) and year(s). Abstract should not not exceed 350 words. The authors must ensure that relevant key words are present in the abstract, as its content can be searched by PubMed and other reference softwares. The abstract should present the essential points made in the article, the purpose of the research, a coherent summary of the findings, and a concise presentation of the conclusions.
Up to 6 keywords are given. They should reflect the central topic of the article. Key words should be typed on the page following the abstract and labeled as such. Since the key words will be used for indexing, they should be specific and avoid terms that may be broadly interpreted. Authors are strongly encouraged to use MeSH terms for indexing (http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?db=mesh). Use American spelling and avoid general and plural terms and multiple concepts (avoid, for example, 'and', 'of'). Be sparing with abbreviations: only abbreviations firmly established in the field may be eligible. These keywords will be used for indexing purposes.
Define any abbreviations that are not standard in this field in the text, by putting abbreviation between brackets after the full text (example: …. In autism spectrum defect (ASD)… Noonan syndrome (NS)… ). Ensure consistency of abbreviations throughout the article.
Collate acknowledgements in a separate section at the end of the article before the references and do not, therefore, include them on the title page, as a footnote to the title or otherwise. List here those individuals who provided help during the research (e.g., providing language help, writing assistance or proof reading the article, etc.).
Present simple formulae in the line of normal text where possible and use the solidus (/) instead of a horizontal line for small fractional terms, e.g., X/Y. In principle, variables are to be presented in italics. Powers of e are often more conveniently denoted by exp. Number consecutively any equations that have to be displayed separately from the text (if referred to explicitly in the text).
Footnotes should be used sparingly. Number them consecutively throughout the article, using superscript Arabic numbers. Many wordprocessors build footnotes into the text, and this feature may be used. Should this not be the case, indicate the position of footnotes in the text and present the footnotes themselves separately at the end of the article. Do not include footnotes in the Reference list. Table footnotes Indicate each footnote in a table with a superscript lowercase letter.
Although some manuscripts may escape the general recommendations that follow (after editor's acceptance), the manuscripts should follow the general templates presented below.
- Introduction. This section contains general informations about the topics addressed by the research. If a general review of the literature is necessary (discouraged in Short Reports), it should be set in the Introduction, in order to separate it clearly from the Discussion itself. Thee is no subheadings in the introduction.
- Patient Data / Material. Patient data heading is used to describe the human subjects under study. It can be subdived if necessary in several subheadings: ascertainment of patients, patient reports, family reports, patient 1, patient 2… The term "case report" is not accepted, and patient should not be identified by their initials or file number. Patients described in a manuscript should be regarded with sensitivity. Stigmatizing terms should be avoided. As often as possible, refer to pictures with relevant features. Facial dysmorphism is better illustrated by a picture than by an extensive description. For large series of patients, use Tables instead of text as often as possible. Keep only the most pertinent points in the main text, and avoid duplication in the main text of informations that are shown in the table. Material replaces the Patient Data section when the research is not focalized on direct observation human beings, but (for instance) on the analysis of large populations with no description of individuals (such as studies based on cohorts or registries), or experimental models
- Methods. This section describes procedures (in conjunction with appropriate references) in order to allow readers to understand how the experiments were performed, with sufficient details to allow all procedures to be repeated. This heading can be further subdivided according to manuscript specificities. Statistical methods deserve a specific paragraph, or a subheading. Widely used methods (such as DNA extraction, classic Sanger sequencing, conventional karyotyping or FISH techniques…) do not have to be described, except for the aspects that are specific to the addressed problem (for instance : type of an array, software parameters used for analysis, references of BACs used in a FISH experiment…).
- Results. The section may be divided with subheadings. As a rule, the results should not be commented or discussed in this section.
- Discussion. The discussion section should be focused on the discussion of the results, perspectives and hypotheses, and ends with a paragraph of conclusion. The section may be divided with subheadings. It should not be redundant with the Results section. Usually, a general introductive review of should not be presented in this section, but rather in the introduction.
- 7.,… Facultative sections: Acknowledgements, Accession numbers, etc.
- Introduction (see Research article template)
- Clinical report. This heading is used to describe the human subjects under study and the results of the investigations. It can be subdived if necessary in several subheadings: 2.1. Patient 1, 2.2. Patient 2… Please provide sex, ethnicity, parental age, biometry at birth and gestational age, biometry at last investigation -with centiles and/or standard deviations. Only relevant (normal and abnormal) results needs reporting. The can be presented in a paragraph at the end of the clinical report, or below a separate subheading when several patients have the same anomaly. Widely used methods (such as DNA extraction, classic Sanger sequencing, conventional karyotyping…) are not described, except for the aspects that are specific to the addressed problem (for instance: type of an array, software parameters used for analysis, references of BACs used in a FISH experiment…).
- Discussion. (see Research article template) -
- 5.,… Facultative sections: Acknowledgements, Accession numbers, etc.
- Abstract. The abstract should include the list of the gene symbols that are discussed in the variation description section
- Clinical description. Please provide sex, ethnicity, parental age, biometry at birth (and gestational age), biometry at last investigation - both with centiles and/or standard deviations, psychomotor development (if possible include IQ or DQ, with the test used and at what age), phenotype at last examination, current age. Use the Standard Terminology proposed Elements of Morphology (vide supra). Give pertinent family information
- Capture method
- Type of sequencer
- Variant analyse strategies (home-made pipeline, public tools…)
- General statistics on sequencing quality, in a Table format (only analyse variants of less than 3% incidence)
- List of database checked (1000 Genomes,…) and date of check
- NGS summary for each sample
- Variations of interest. All variants presented in this section have predicted pathogenicity by at least one prediction program and occur in genes could be hypothesized to be associated with the phenotype based on current knowledge of gene function, pathway, expression pattern, etc… All variants must have been checked by Sanger sequencing in the trio. Other variants will only be available online (see Supplementary data). Secondary findings unrelated to the phenotype will not been reported.
Sequence variation(s) reported in the main section should be ordered similarly
- heterozygous variants/indel present in the proband and absent in parents and controls;
- homozygous variants/indel and hemizygous X variants never reported in controls; and
- genes with two rare non synonymous variants/indel with mean allelic frequency <0.03, present in the proband, but not seen together in the parents and controls.
Limit reports in this section to (1) indels with >5 variant reads and a variant/reference read ratio >0.3 and (2) single nucleotide variations that that have coverage ≥10 in proband and parents, whose raw alignment has been checked in parents, Mandatory information are listed below. If more than one significant variation is identified, results are presented in a tabular form using this template, direct or transposed (an exemple of exonic, intronic and INDEL is given).
The full list of variants is added as supplementary material with similar dataset
- Discussion. Argument the selection of candidate genes that you kept in this section.
- Facultative sections: Acknowledgements,…etc.
- Supplementary Table (mandatory). Include full data set in an Excel table, including variants for which Sanger sequencing was not perforrmed, or not predicted to be pathogenic by prediction softwares. Requested information is similar to previous section. Include here at least:
- References. Maximum 2 references by candidate gene.
- Clinical description. Please provide sex, ethnicity, parental age, biometry at birth (and gestational age), biometry at last investigation - both with centiles and/or standard deviations, psychomotor development (if possible include IQ or DQ, with the test used and at what age), phenotype at last examination, current age.
- Methods. For Array-CGH give precise type of the array, the software used for analysis… The draft version of the genome used for reporting the anomalies must be given when the position of the nucleotide are given. End the section with the method of confirmation: FISH, microsatellite, MAPH, MLPA… and the results of family screening. Confirm the status of the region in DGV and/or DECIPHER databases (or another similar reference database of human genomic variants).
- Genomic rearrangement. For BACs, give the name and position of the probe (when interrupted), or the name and position of the 2 probes between which each chromosomal break occurred. For array technologies, give the positions in nt of the 2 flanking probes with the number of the genome draft used as reference. Precise minimal and maximal sizes and parental origin (if studied).
- Discussion. Do not repeat the phenotypic description but indicate most characteristic feature(s). Compare with previous report(s) on similar chromosomal imbalances… stressing on possible genotype/phenotype correlations. Candidate genes and may be discussed here. If necessary, the list of all genes present in the rearranged region can be added as a Supplementary Table.
- Facultative sections: Acknowledgements, Accession numbers, etc.
It is not necessary to include detailed descriptions on the program or type of grants and awards. When funding is from a block grant or other resources available to a university, college, or other research institution, submit the name of the institute or organization that provided the funding.If no funding has been provided for the research, please include the following sentence:
This research did not receive any specific grant from funding agencies in the public, commercial, or not-for-profit sectors.Artwork
FOR RECOGNIZABLE PICTURES OF PATIENTS: if you submit unblocked facial pictures, you MUST download a dedicated form (DOWNLOAD HERE), fill and sign it and submit a scanned copy. Select file type "Permit to publish" in the dropbox menu to upload the scan. Submissions with recognizable facial pictures missing the form will be returned to the author and will not enter the reviewing process. DO NOT UPLOAD the signed permits themselves: store them locally.
• Make sure you use uniform lettering and sizing of your original artwork.
• Preferred fonts: Arial (or Helvetica), Times New Roman (or Times), Symbol, Courier.
• Number the illustrations according to their sequence in the text.
• Use a logical naming convention for your artwork files.
• Indicate per figure if it is a single, 1.5 or 2-column fitting image.
• For Word submissions only, you may still provide figures and their captions, and tables within a single file at the revision stage.
• Please note that individual figure files larger than 10 MB must be provided in separate source files.
A detailed guide on electronic artwork is available.
You are urged to visit this site; some excerpts from the detailed information are given here.
Regardless of the application used, when your electronic artwork is finalized, please 'save as' or convert the images to one of the following formats (note the resolution requirements for line drawings, halftones, and line/halftone combinations given below):
EPS (or PDF): Vector drawings. Embed the font or save the text as 'graphics'.
TIFF (or JPG): Color or grayscale photographs (halftones): always use a minimum of 300 dpi.
TIFF (or JPG): Bitmapped line drawings: use a minimum of 1000 dpi.
TIFF (or JPG): Combinations bitmapped line/half-tone (color or grayscale): a minimum of 500 dpi is required.
Please do not:
• Supply files that are optimized for screen use (e.g., GIF, BMP, PICT, WPG); the resolution is too low.
• Supply files that are too low in resolution.
• Submit graphics that are disproportionately large for the content.
The digital image files are entered separately from the manuscript text file in the web site (do NOT include the images with the manuscript text file). Image sizes for review purposes should be sufficient to allow reviewers to clearly see the elements of the figure. Color images and figures are strongly encouraged, as they are published online at no cost to the authors. Color images are placed against a white background wherever possible. For each figure, an individual high resolution digital files must be uploaded.
For figures that have multiple panels, the labels should be set in uppercase letters in Arial font, taking the scale reduction in account for the font size. Do not include separate panels on multiple pages. White or black arrows can be added on the pics for sake of clarity. Micrographs should be provided with a scale bar, if appropriate. Magnification can be added in the caption. Pedigrees should be drawn according to the published standards of Am J Human Genetics 1995 56:745-752)Legend of figures. A caption should comprise a brief title (not on the figure itself) and a description of the illustration. Legends are presented on a separate page of the main text file. The legend should explain what is being illustrated without the need to refer back to the text. Authors should describe the abnormal findings illustrated by the figure and not mention only (for instance) "abnormal aspect of the X rays of patient 1". White or black arrows can be added on the pics for sake of clarity. If references are embedded within a figure, they must also be cited within the figure legend. Keep text in the illustrations themselves to a minimum but explain all symbols and abbreviations used.
Ensure that each illustration has a caption. A caption should comprise a brief title (not on the figure itself) and a description of the illustration. Keep text in the illustrations themselves to a minimum but explain all symbols and abbreviations used.
Tables are self-explanatory and do not duplicate information present in the text. Each table must have a title. If necessary, place footnotes to tables below the table body and indicate them with superscript lowercase letters. Avoid vertical rules. Any symbols and abbreviations used in the table body must be defined in a footnote to the table. Each Table is presented on a separate page, followed by its legend
Legend of Tables. The legend should explain the Table without the need to refer back to the text.References
Citation in text
Please ensure that every reference cited in the text is also present in the reference list (and vice versa). Any references cited in the abstract must be given in full. Unpublished results and personal communications are not recommended in the reference list, but may be mentioned in the text. If these references are included in the reference list they should follow the standard reference style of the journal and should include a substitution of the publication date with either 'Unpublished results' or 'Personal communication'. Citation of a reference as 'in press' implies that the item has been accepted for publication.
Please ensure that the words 'this issue' are added to any references in the list (and any citations in the text) to other articles in the same Special Issue.
Reference management software
Most Elsevier journals have their reference template available in many of the most popular reference management software products. These include all products that support Citation Style Language styles, such as Mendeley and Zotero, as well as EndNote. Using the word processor plug-ins from these products, authors only need to select the appropriate journal template when preparing their article, after which citations and bibliographies will be automatically formatted in the journal's style. If no template is yet available for this journal, please follow the format of the sample references and citations as shown in this Guide.
Users of Mendeley Desktop can easily install the reference style for this journal by clicking the following link:
When preparing your manuscript, you will then be able to select this style using the Mendeley plug-ins for Microsoft Word or LibreOffice.
There are no strict requirements on reference formatting at submission. References can be in any style or format as long as the style is consistent. Where applicable, author(s) name(s), journal title/book title, chapter title/article title, year of publication, volume number/book chapter and the pagination must be present. Use of DOI is highly encouraged. The reference style used by the journal will be applied to the accepted article by Elsevier at the proof stage. Note that missing data will be highlighted at proof stage for the author to correct. If you do wish to format the references yourself they should be arranged according to the following examples:
Text: All citations in the text should refer to:
1. Single author: the author's name (without initials, unless there is ambiguity) and the year of publication;
2. Two authors: both authors' names and the year of publication;
3. Three or more authors: first author's name followed by 'et al.' and the year of publication.
Citations may be made directly (or parenthetically). Groups of references should be listed first alphabetically, then chronologically.
Examples: 'as demonstrated (Allan, 2000a, 2000b, 1999; Allan and Jones, 1999). Kramer et al. (2010) have recently shown ....'
List: References should be arranged first alphabetically and then further sorted chronologically if necessary. More than one reference from the same author(s) in the same year must be identified by the letters 'a', 'b', 'c', etc., placed after the year of publication.
Reference to a journal publication:
Van der Geer, J., Hanraads, J.A.J., Lupton, R.A., 2010. The art of writing a scientific article. J. Sci. Commun. 163, 51–59.
Reference to a book:
Strunk Jr., W., White, E.B., 2000. The Elements of Style, fourth ed. Longman, New York.
Reference to a chapter in an edited book:
Mettam, G.R., Adams, L.B., 2009. How to prepare an electronic version of your article, in: Jones, B.S., Smith , R.Z. (Eds.), Introduction to the Electronic Age. E-Publishing Inc., New York, pp. 281–304.
Reference to a website:
Cancer Research UK, 1975. Cancer statistics reports for the UK. http://www.cancerresearchuk.org/aboutcancer/statistics/cancerstatsreport/ (accessed 13.03.03).
Elsevier accepts video material and animation sequences to support and enhance your scientific research. Authors who have video or animation files that they wish to submit with their article are strongly encouraged to include links to these within the body of the article. This can be done in the same way as a figure or table by referring to the video or animation content and noting in the body text where it should be placed. All submitted files should be properly labeled so that they directly relate to the video file's content. In order to ensure that your video or animation material is directly usable, please provide the files in one of our recommended file formats with a preferred maximum size of 150 MB. Video and animation files supplied will be published online in the electronic version of your article in Elsevier Web products, including ScienceDirect. Please supply 'stills' with your files: you can choose any frame from the video or animation or make a separate image. These will be used instead of standard icons and will personalize the link to your video data. For more detailed instructions please visit our video instruction pages. Note: since video and animation cannot be embedded in the print version of the journal, please provide text for both the electronic and the print version for the portions of the article that refer to this content.
Supplementary material can support and enhance your scientific research. Supplementary files offer the author additional possibilities to publish supporting applications, high-resolution images, background datasets, sound clips and more. Please note that such items are published online exactly as they are submitted; there is no typesetting involved (supplementary data supplied as an Excel file or as a PowerPoint slide will appear as such online). Please submit the material together with the article and supply a concise and descriptive caption for each file. If you wish to make any changes to supplementary data during any stage of the process, then please make sure to provide an updated file, and do not annotate any corrections on a previous version. Please also make sure to switch off the 'Track Changes' option in any Microsoft Office files as these will appear in the published supplementary file(s). For more detailed instructions please visit our artwork instruction pages.
Please use the following template to write your Data in Brief.Data in Brief
Authors have the option of converting any or all parts of their supplementary or additional raw data into one or multiple Data in Brief articles, a new kind of article that houses and describes their data. Data in Brief articles ensure that your data, which is normally buried in supplementary material, is actively reviewed, curated, formatted, indexed, given a DOI and publicly available to all upon publication. Authors are encouraged to submit their Data in Brief article as an additional item directly alongside the revised version of their manuscript. If your research article is accepted, your Data in Brief article will automatically be transferred over to Data in Brief where it will be editorially reviewed and published in the new, open access journal, Data in Brief. Please note an open access fee is payable for publication in Data in Brief. Full details can be found on the Data in Brief website. Please use this template to write your Data in Brief.
The journal encourages authors to create an AudioSlides presentation with their published article. AudioSlides are brief, webinar-style presentations that are shown next to the online article on ScienceDirect. This gives authors the opportunity to summarize their research in their own words and to help readers understand what the paper is about. More information and examples are available. Authors of this journal will automatically receive an invitation e-mail to create an AudioSlides presentation after acceptance of their paper.
This journal enables you to show an Interactive Plot with your article by simply submitting a data file. Full instructions.
Full Online Submission
The following list will be useful during the final checking of an article prior to sending it to the journal for review. Please consult this Guide for Authors for further details of any item.
Ensure that the following items are present:
One Author designated as corresponding Author:
• E-mail address
• Full postal address
• Telephone and fax numbers
All necessary files have been uploaded
• All figure captions
• All tables (including title, description, footnotes)
• Manuscript has been "spellchecked" and "grammar-checked"
• References are in the correct format for this journal
• All references mentioned in the Reference list are cited in the text, and vice versa
• Permission has been obtained for use of copyrighted material from other sources (including the Web)
• Color figures are clearly marked as being intended for color reproduction on the Web (free of charge) and in print or to be reproduced in color on the Web (free of charge) and in black-and-white in print
• Patient figures must have the accompanying permission form.
• If only color on the Web is required, black and white versions of the figures are also supplied for printing purposes
For any further information please visit our customer support site at http://support.elsevier.com.
Online proof correction
Corresponding authors will receive an e-mail with a link to our online proofing system, allowing annotation and correction of proofs online. The environment is similar to MS Word: in addition to editing text, you can also comment on figures/tables and answer questions from the Copy Editor. Web-based proofing provides a faster and less error-prone process by allowing you to directly type your corrections, eliminating the potential introduction of errors.
If preferred, you can still choose to annotate and upload your edits on the PDF version. All instructions for proofing will be given in the e-mail we send to authors, including alternative methods to the online version and PDF.
We will do everything possible to get your article published quickly and accurately. Please use this proof only for checking the typesetting, editing, completeness and correctness of the text, tables and figures. Significant changes to the article as accepted for publication will only be considered at this stage with permission from the Editor. It is important to ensure that all corrections are sent back to us in one communication. Please check carefully before replying, as inclusion of any subsequent corrections cannot be guaranteed. Proofreading is solely your responsibility.
The corresponding author will, at no cost, receive a customized Share Link providing 50 days free access to the final published version of the article on ScienceDirect. The Share Link can be used for sharing the article via any communication channel, including email and social media. For an extra charge, paper offprints can be ordered via the offprint order form which is sent once the article is accepted for publication. Both corresponding and co-authors may order offprints at any time via Elsevier's Webshop. Corresponding authors who have published their article open access do not receive a Share Link as their final published version of the article is available open access on ScienceDirect and can be shared through the article DOI link.
Visit the Elsevier Support Center to find the answers you need. Here you will find everything from Frequently Asked Questions to ways to get in touch.
You can also check the status of your submitted article or find out when your accepted article will be published.