Journal of Biochemical and Clinical Genetics

Important: We are simplifying the submission experience. There is no need to submit tables and figures separately. Please include all the figures and tables in the main text document (WORD File) of your manuscript. We would ask for high-resolution images (600 dpi images in .tif format), once your article is accepted to ensure quality production of the images.

Remember: You can not withdraw after the submission. If you wish to withdraw after acceptance but before final publishing, you need to pay the processing charges incurred ($250)..

In general, symbols/names for genes should be italicized, whereas symbols for proteins are not required to be italicized in the manuscript.

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://fged.org/projects/miame/ . HMG also requires submission of microarray data to the GEO ( https://www.ncbi.nlm.nih.gov/geo/) or ArrayExpress ( https://www.ebi.ac.uk/arrayexpress/) databases, with accession numbers at or before acceptance for publication.

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

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. 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. https://www.mutalyzer.nl/ using batch mode, all variants can be analyzed at once).

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).

For every article, title page must be submitted separately to ensure blind review.

Announcements of conferences, meetings, courses, awards and other news items likely to be of interest to the readers should be emailed with the name and address of the person from whom additional information can be obtained. Up to 100 words only.

The contributors are required to provide names of three qualified reviewers who have had experience in the subject of the submitted manuscript, but who are not affiliated with the same institutes as the contributor/s.

Language and grammar: We suggest using American English but UK English is also acceptable. Please don't mix the two.

Original articles: Randomized controlled trials, intervention studies, studies of screening and diagnostic test, outcome studies, cost effectiveness analyses, case-control series, and surveys with high response rate, basic research and technology research.
Review articles: Reviews should be systemic critical assessments of literature and data sources. Generally, Reviews are accepted by invitation only.
Case reports: New/interesting/very rare cases can be reported. Cases with clinical significance or implications will be given priority, whereas, mere reporting of a rare case may not be considered.
Letter to the Editor: It should be short, decisive observation. They should not be preliminary observations that need a later paper for validation.

Types of Manuscripts	Abstract	Main text	Tables/figures	References
Original articles	250 words, structured	2500 words	8	30
Review articles	250 words, unstructured	4000 words	6	50
Case reports	200 words, structured	1500 words	8	10
Letter to editor	Not required	500 words	2	5

3. Authorship Criteria

1. to conception and design or acquisition of data or analysis and interpretation of data;
2. drafting the article or revising it critically for important intellectual content; and
3. final approval of the version to be published.

Conditions 1, 2, and 3 must all be met. Participation solely in the acquisition of funding or the collection of data does not justify authorship.

Each contributor should have participated sufficiently in the work to take public responsibility for appropriate portions of the content.

The order of naming the contributors should be based on the relative contribution of the contributor towards the study and writing the manuscript.

Once submitted the order cannot be changed without written consent of all the contributors.

For a study from in a single institute, the number of contributors should not exceed six. For a case-report, images, letter to the editor and review article the number of contributors should not exceed four. A justification should be included if the number of contributors exceeds these limits.

Only those who have done substantial work in a particular field can write a review article. A short summary of the work done by the contributor(s) in the field of review should accompany the manuscript. The journal expects the contributors to give post-publication updates on the subject of review. The update should be brief, covering the advances in the field after the publication of article and should send a letter to editor when major development occurs in the field.

Contributors should provide a description of what each of them contributed towards the manuscript. Description should be divided in following categories, as applicable: concepts, design, definition of intellectual content, literature search, clinical studies, experimental studies, data acquisition, data analysis, statistical analysis, manuscript preparation, manuscript editing and manuscript review. One or more author should take responsibility of the integrity of the work as a whole from inception to published article and should be designated as ‘guarantor’.

Please follow the hyperlink “Submit a Manuscript” on the website and upload all of your manuscript files following the instructions given on the screen.

Submission of a manuscript implies: that the work described has not been published before; that it is not under consideration for publication anywhere else; that its publication has been approved by all co-authors (if any) as well as by the responsible authorities – tacitly or explicitly – at the institute where the work has been carried out. The publisher will not be held legally responsible should there be any claims for compensation.

Authors wishing to include figures, tables or content that have already been published elsewhere are required to obtain permission from the copyright owner(s) for both the print and online format and to include evidence that such permission has been granted when submitting their papers. Any material received without such evidence will be assumed to originate from the authors.

The name(s) of the author(s)
A concise and informative title along with short/running title and type of the article
The affiliation(s) and address(es) of the author(s)
The e-mail address and telephone number(s) of the corresponding author
If available, the 16-digit ORCID of the author(s)

Please provide a structured (Background, Methods, Results, Conclusion) abstract of up to 250 words. Methods and Results section should be replaced by “Case Presentation” for case reports. The abstract should not contain any undefined abbreviations or unspecified references. Review articles may have an unstructured abstract.

Please provide 4 to 6 keywords which can be used for indexing purposes. For case reports; the word ‘case report’ should be added in keywords.

Use a normal, plain font (e.g., 12-point Times New Roman) for text with double line spacing.
Use the automatic page numbering function to number the pages.
Do not use field functions.
Use tab stops or other commands for indents, not the space bar.
Use the table function, not spreadsheets, to make tables.
Use the equation editor or MathType for equations.
Save your file in .docx format (Word 2007 or higher) or .doc format (older Word versions).

Please use no more than three levels of displayed headings. For Review Articles, number the headings as in APA format. It makes it easy to distinguish between the main heading and sub-headings.

Abbreviations should be defined at first mention and used consistently thereafter. A list of abbreviations must be provided at the end of the manuscript (not required for Letter to Editor).

Acknowledgments of people, grants, funds, etc. should be placed in a separate section on the title page. The names of funding organizations should be written in full.

When possible, quantify findings and present them with appropriate indicators of measurement error or uncertainty (such as confidence intervals). Report losses to observation (such as dropouts from a clinical trial). Put a general description of methods in the Methods section. When data are summarized in the Results section, specify the statistical methods used to analyze them. Avoid non-technical uses of technical terms in statistics, such as ‘random’ (which implies a randomizing device), ‘normal’, ‘significant’, ‘correlations’ and ‘sample’. Define statistical terms, abbreviations and most symbols. Use upper italics (P 0.048). For all P values include the exact value and not less than 0.05 or 0.001.

The Methods section should include only information that was available at the time the plan or protocol for the study was written; all information obtained during the conduct of the study belongs to the Results section.

Describe your selection of the observational or experimental participants or materials (patients or laboratory animals, including controls) clearly, including eligibility and exclusion criteria and a description of the source population. Because the relevance of such variables as age and sex to the object of research is not always clear, authors should explain their use when they are included in a study report; for example, authors should explain why only subjects of certain ages were included or why women were excluded or why particular materials were included or excluded.

The guiding principle should be clarity about how and why a study was done in a particular way. When authors use variables such as race or ethnicity, they should define how they measured the variables and justify their relevance.

Technical information: Identify the methods, apparatus (give the manufacturer’s name and address in parentheses) and procedures in sufficient detail to allow other workers to reproduce the results. Give references to established methods, including statistical methods (see above); provide references and brief descriptions for methods that have been published but are not well known; describe new or substantially modified methods, give reasons for using them and evaluate their limitations. Identify precisely all drugs and chemicals used, including generic name(s), dose(s), and route(s) of administration.

Authors submitting review manuscripts should include a section describing the methods used for locating, selecting, extracting and synthesizing data. These methods should also be summarized in the abstract. Please use standard reporting tools available at EQUATOR network.

Reports of randomized clinical trials should present information on all major study elements, including the protocol, assignment of interventions (methods of randomization, concealment of allocation to treatment groups) and the method of masking (blinding) based on the CONSORT Statement (Moher D, Schulz KF, Altman DG: The CONSORT Statement: Revised Recommendations for Improving the Quality of Reports of Parallel-Group Randomized Trials. Ann Intern Med. 2001;134:657-662, also available at http://www.consort-statement.org).

Authors submitting review article should include a section describing the methods used for locating, selecting, extracting and synthesizing data. These methods should also be summarized in the abstract.

Present your results in logical sequence in the text, tables and illustrations, giving the main or most important findings first. Do not repeat in the text all the data in the tables or illustrations; emphasize or summarize only important observations. Extra or supplementary materials and technical detail can be placed in an appendix where it will be accessible but will not interrupt the flow of the text; alternatively, it can be published only in the electronic version of the journal.

When data are summarized in the Results section, give numeric results not only as derivatives (for example, percentages) but also as the absolute numbers from which the derivatives were calculated and specify the statistical methods used to analyze them. Restrict tables and figures to those needed to explain the argument of the paper and to assess its support. Use graphs as an alternative to tables with many entries; do not duplicate data in graphs and tables. Avoid non-technical use of technical terms in statistics, such as “random” (which implies a randomizing device), “normal”, “significant”, “correlations” and “sample.” Where scientifically appropriate, analyses of the data by variables such as age and sex should be included.

Include Summary of key findings (primary outcome measures, secondary outcome measures, results as they relate to a prior hypothesis); Strengths and limitations of the study (study question, study design, data collection, analysis); Interpretation and implications.

In the context of the totality of evidence (a systematic review to refer to, if not, could one be reasonably done here and now? what this study adds to the available evidence, effects on patient care and health policy, possible mechanisms); Controversies raised by this study; and Future research directions (for this particular research collaboration, underlying mechanisms, clinical research). Do not repeat in detail data or other material given in the Introduction or the Results section.

In particular, contributors should avoid making statements on economic benefits and costs unless their manuscript includes economic data and analyses. Avoid claiming priority and alluding to work that has not been completed. State new hypotheses when warranted but clearly label them as such.

Acknowledgments: Acknowledgments of people, grants, funds, etc. should be placed in a separate section on the title page. The names of funding organizations should be written in full.

Funding: (Disclose any funding sources along with grant number and date and also describe the role of the funding agency)

Declaration of conflicting interests: (Authors must declare any financial or personal situation which may have influenced their research or the publication: even if there is no conflict of interest, authors must state this – see the following sample statement):

The authors of this article have no affiliations with or involvement in any organization or entity with any financial interest or non-financial interest in the subject matter or materials discussed in this manuscript.

Consent for publication: (Applicable to case reports only, a sample statement is provided below)

Due permission was obtained from the patient/parents/guardians of the patient to publish the case and the accompanying images.

Example: Ethical approval was granted by Ethics Committee/Institutional Review Board/Research Committee (choose whichever is applicable) via reference/letter number ---- dated: -----.

Given the observational /non-interventional design of the study, formal ethics approval was not sought.

The journal follows Vancouver style of references. Reference citations in the text should be identified by numbers in round brackets before the punctuation marks. Some examples:

The list of references should only include works that are cited in the text and that have been published or accepted for publication. Personal communications and unpublished works should only be mentioned in the text. Do not use footnotes or endnotes as a substitute for a reference list. Please use Vancouver style of references with only year in the date field and use et al after first 6 authors if there are 7 or more authors.

Smith JJ. The world of science. American Journal of Science. 1999;36:234–5. (Issue numbers may be skipped if the journal uses continuous pagination in a volume.)

Slifka MK, Whitton JL. Clinical implications of dysregulated cytokine production. Am J Sci. 1999;36:234–5. https://doi:10.1007/s001090000086. Please always use doi where available.

Blenkinsopp A, Paxton P. Symptoms in the pharmacy: a guide to the management of common illness. 3rd ed. Oxford: Blackwell Science; 1998.

Wyllie AH, Kerr JFR, Currie AR. Cell death: the significance of apoptosis. In: Bourne GH, Danielli JF, Jeon KW, editors. International review of cytology. London: Academic; 2017. pp. 251–306.

Doe J. Title of subordinate document. In: The dictionary of substances and their effects. Royal Society of Chemistry. 1999. http://www.rsc.org/dose/title of subordinate document. Accessed 15 Jan 1999.

For authors using EndNote, Discover Publishing Group provides an output style that supports the formatting of in-text citations and reference list. EndNote style

All tables are to be numbered using Arabic numerals.
Tables should always be cited in text in consecutive numerical order.
For each table, please provide a table caption (title) explaining the components of the table.
Identify any previously published material by giving the original source in the form of a reference at the end of the table caption.
Footnotes to tables should be indicated by superscript lower-case letters (or asterisks for significance values and other statistical data) and included beneath the table body. Tables should be included in the main text file, and should not be submitted as a separate file.

(Figures created in MS Excel can be sent in Excel /MS Word/ PowerPoint with imbedded data for easy reproduction by production department. Or follow the instructions given below)

Provide all figures electronically.
Indicate what graphics program was used to create the artwork.
For vector graphics, the preferred format is EPS; for halftones, please use TIFF format. MS Office files are also acceptable.
Vector graphics containing fonts must have the fonts embedded in the files.
Name your figure files with "Fig" and the figure number, e.g., Fig1.eps.

To add lettering, it is best to use Helvetica or Arial (sans serif fonts).
Keep lettering consistently sized throughout your final-sized artwork, usually about 2–3 mm (10–12 pt).
Variance of type size within an illustration should be minimal, e.g., do not use 8-pt type on an axis and 20-pt type for the axis label.
Avoid effects such as shading, outline letters, etc.
Do not include titles or captions within your illustrations.

All figures are to be numbered using Arabic numerals.
Figures should always be cited in text in consecutive numerical order.
Figure parts should be denoted by lowercase letters (a, b, c, etc.).
If an appendix appears in your article and it contains one or more figures, continue the consecutive numbering of the main text. Do not number the appendix figures, "A1, A2, A3, etc." Figures in online appendices (Electronic Supplementary Material) should, however, be numbered separately.

Each figure should have a concise caption describing accurately what the figure depicts. Include the captions in the text file of the manuscript, not in the figure file.
Figure captions begin with the term Fig. in bold type, followed by the figure number, also in bold type.
No punctuation is to be included after the number, nor is any punctuation to be placed at the end of the caption.
Identify all elements found in the figure in the figure caption; and use boxes, circles etc., as coordinate points in graphs.
Identify previously published material by giving the original source in the form of a reference citation at the end of the figure caption.

Figures should be submitted separately from the text, if possible.
When preparing your figures, size figures to fit in the column width.

If you include figures that have already been published elsewhere, you must obtain permission from the copyright owner(s) for both the print and online format. Please be aware that some publishers do not grant electronic rights for free and that the journal or the publisher will not be able to refund any costs that may have occurred to receive these permissions. In such cases, material from other sources should be used.

Provide all supplementary material in standard file formats.
Please include in each file the following information: article title, journal name, author names; affiliation and e-mail address of the corresponding author.
To accommodate user downloads, please keep in mind that larger-sized files may require very long download times and that some users may experience other problems during downloading.

If supplying any supplementary material, the text must make specific mention of the material as a citation, similar to that of figures and tables.
Name the files consecutively, e.g. “ESM_3.mpg”, “ESM_4.pdf”.

For each supplementary material, please supply a concise caption describing the content of the file.

The publisher is committed to upholding the integrity of the scientific record. It adheres to the policies advocated by the Committee on Publication Ethics (COPE) and will follow the COPE guidelines on how to deal with potential acts of misconduct.

Authors should refrain from misrepresenting research results which could damage the trust in the journal, the professionalism of scientific authorship and ultimately the entire scientific endeavor. Maintaining integrity of the research and its presentation can be achieved by following the rules of good scientific practice, which include:

The manuscript has not been submitted to more than one journal for simultaneous consideration.
The manuscript has not been published previously (partly or in full), unless the new work concerns an expansion of previous work (please provide transparency on the re-use of material to avoid the hint of text-recycling [self-plagiarism]).
A single study is not split up into several parts to increase the quantity of submissions and submitted to various journals or to one journal over time (e.g. salami-publishing).
No data have been fabricated or manipulated (including images) to support your conclusions
No data, text, or theories by others are presented as if they were the author’s own (plagiarism). Proper acknowledgements to other works must be given (this includes material that is closely copied (near verbatim), summarized and/or paraphrased), quotation marks are used for verbatim copying of material, and permissions are secured for material that is copyrighted.

Consent to submit has been received explicitly from all co-authors, as well as from the responsible authorities - tacitly or explicitly - at the institute/organization where the work has been carried out, before the work is submitted.
Authors whose names appear on the submission have contributed sufficiently to the scientific work and therefore share collective responsibility and accountability for the results.
Authors are strongly advised to ensure the correct author group, corresponding author, and order of authors at submission. Changes of authorship or in the order of authors are not accepted after acceptance of a manuscript.
Adding and/or deleting authors at revision stage may be justifiably warranted. A letter must accompany the revised manuscript to explain the role of the added and/or deleted author(s). Further documentation may be required to support your request.
Requests for addition or removal of authors as a result of authorship disputes after acceptance are honored after formal notification by the institute or independent body and/or when there is agreement between all authors.
Upon request authors should be prepared to send relevant documentation or data in order to verify the validity of the results. This could be in the form of raw data, samples, records, etc. Sensitive information in the form of confidential proprietary data is excluded.

If there is a suspicion of misconduct, the journal will carry out an investigation following the COPE guidelines. If, after investigation, the allegation seems to raise valid concerns, the accused author will be contacted and given an opportunity to address the issue. If misconduct has been established beyond reasonable doubt, this may result in the Editor-in-Chief’s implementation of the following measures, including, but not limited to:

If the article is still under consideration, it may be rejected and returned to the author.
If the article has already been published online, depending on the nature and severity of the infraction, either an erratum will be placed with the article or in severe cases complete retraction of the article will occur. The reason must be given in the published erratum or retraction note. Please note that retraction means that the paper is maintained on the platform, watermarked "retracted" and explanation for the retraction is provided in a note linked to the watermarked article.
The author’s institution will be informed.

Authors are expected to familiarise themselves with these policies and ensure that their articles conform to them. [The policies can be accessed from here],

The journal does not require authors to assign copyright. Authors (or the original copyright owner) retain copyright but grant the journal rights of publication under a CC BY licence. Under this licence, anyone is free to reuse the article without seeking permission, but must always credit the authors, and provide full citation. https://creativecommons.org/licenses/by/4.0/.

The purpose of the proof is to check for typesetting or conversion errors and the completeness and accuracy of the text, tables and figures. Substantial changes in content, e.g., new results, corrected values, title and authorship are not allowed without the approval of the Editor. After online publication, further changes can only be made in the form of an Erratum, which will be hyperlinked to the article.

The article will be published online after receipt of the corrected proofs. This is the official first publication citable with the DOI. After release of the printed version, the paper can also be cited by issue and page numbers.

For editors and reviewers to accurately assess the work presented in your manuscript you need to ensure the English language is of sufficient quality to be understood. We recommend following service to provide language editing certificate and plagiarism report.

Please note that the use of a language editing service is not a requirement for publication in this journal and does not imply or guarantee that the article will be selected for peer review or accepted.

13. Article Processing Charges

14. Licence to publish

The authors assert that they are the copyright owners and, if accepted, permit the journal to publish their article under an Open Access CC BY licence (https://creativecommons.org/licenses/by/4.0/)

The authors assert that they are not the copyright owner in the article but have the permission of the copyright owner to publish in the journal under an Open Access CC BY licence (https://creativecommons.org/licenses/by/4.0/). Please provide the name of the copyright owner in the cover letter during the submission.

Should the article be rejected all publication and other rights revert back to the authors (or other copyright owners).

The publisher reserves the right to withdraw or remove any content that is considered to be in breach of these warranties.

3. Authorship Criteria

13. Article Processing Charges

14. Licence to publish