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Information for Authors
The American Journal of Human Genetics is owned and controlled by The
American Society of Human Genetics and is edited, in conjunction with the
publisher, by a staff appointed by the Society. Established in 1949, the AJHG is
currently published monthly by Cell Press. Membership in The American Society
of Human Genetics is not a prerequisite for publication in the AJHG, but all page
charges and color figure charges are waived for manuscripts for which the
corresponding author is a member at the time the manuscript is sent to press.

The entire contents of the AJHG are published online, at http://www.ajhg.org.
The full text is available to subscribers, as is online-only material, including video
clips and archival databases. Six months after publication, the electronic edition
of the AJHG is freely accessible to the general public.

Aims and Scope

The American Journal of Human Genetics provides a record of research and
review relating to heredity in humans and to the application of genetic principles
in medicine and public policy, as well as in related areas of molecular and cell
biology. Topics explored by the AJHG include behavioral genetics, biochemical
genetics, clinical genetics, cytogenetics, dysmorphology, gene therapy, genetic
counseling, genetic epidemiology, genomics, immunogenetics, molecular
genetics, neurogenetics, and population genetics.

The AJHG welcomes submissions of articles and reports on timely subjects
concerning all aspects of human genetics, including studies of model organisms
that are of direct relevance to human genetics. Manuscripts should be written in a
manner accessible to investigators representing diverse backgrounds in human
genetics. Descriptions of new statistical methods of general interest to the
genetics community are welcome. New methods should be compared to existing
methods using real data and/or simulations with parameters (e.g. haplotype
frequencies, effect sizes) that are based on a real data example (e.g.
marker/haplotype data from the HapMap project). All novel computer programs
must be made publicly available by the time the manuscript is published and a
URL for the website must be included in the Web Resources section of the
manuscript. Letters commenting on material previously published in the AJHG
are also welcome.

The AJHG does not publish reports of either single mutations or mutational
surveys of previously identified loci unless they have unusual significance and
substantial insight. Descriptions of new linkage assignments will be considered
only if they are of special interest. Reports of negative data will not normally be
considered.
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Editorial Process
All submissions are initially evaluated in depth by the scientific editors. Papers
that do not conform to the general criteria for publication will be returned to the
authors without detailed review, typically within 3-5 days. Otherwise, manuscripts
will be sent to at least two reviewers who have agreed in advance to assess the
paper rapidly. The editors will make every effort to reach decisions on these
papers within 4 weeks of the submission date. If revisions are a condition of
publication, we generally allow 4 weeks for revisions and consider only one
revised version of the paper. Evaluations of conceptual advance and significance
are made based on the literature available on the day of the final decision, not
the day of submission. Accepted papers will be published within 3 months of
acceptance. Any major changes after acceptance are subject to review and may
delay publication.

Fast-track review
If circumstances so warrant, a fast-track review of a paper may be requested in
the cover letter. At the Editor's discretion, a 24- to 48-hour fast-track review will
be undertaken to expedite manuscripts that deserve rapid review and publication.

Editorial Policies

Manuscripts are considered with the understanding that no part of the work has
been published previously in print or electronic format and the paper is not under
consideration by another publication or electronic medium. All in-press or
submitted works that are pertinent to the manuscript under consideration by the
AJHG (including those cited in the manuscript under consideration) must
accompany the submission. Related manuscripts that have been submitted
elsewhere during the period of revision must accompany revised manuscripts.
Failure to provide copies of related manuscripts under consideration elsewhere
may delay the review process and may be grounds for rejection. Under no
circumstances will any paper be considered that contains any data that have
been submitted for publication elsewhere.

Authorship
The corresponding author is responsible for ensuring that all appropriate
contributors are listed as authors and that all authors have agreed to the
manuscript's content and its submission to the AJHG. In a case where we
become aware of an authorship dispute, authorship must be approved in writing
by all of the parties.

Conflict of Interest
The AJHG requires all authors to disclose any financial conflict of interest that
might be construed to influence the results or interpretation of their manuscript.
Authors must declare any such conflict in the cover letter accompanying the
manuscript and in the Acknowledgments section of the manuscript itself. The
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corresponding author will be asked to sign a form on behalf of all the authors
regarding potential conflicts of interest at the time of acceptance. As a guideline,
any affiliation associated with a payment or financial benefit exceeding $10,000
p.a. or 5% ownership of a company or research funding by a company with
related interests would constitute a conflict that must be declared. This policy
applies to all submitted research manuscripts and review material. Examples of
statement language include: AUTHOR is an employee and shareholder of
COMPANY; AUTHOR is a founder of COMPANY and a member of its scientific
advisory board; This work was supported in part by a grant from COMPANY.

Studies Involving Humans and Animals
If the manuscript reports results of studies of either human subjects or materials
obtained from human subjects, state in the Material and Methods section that the
study was approved by the appropriate institutional review board (IRB) and/or
that appropriate informed consent was obtained from human subjects. Copies of
signed consent forms from identifiable persons appearing in any photographs
submitted with the manuscript must be faxed to the AJHG office at the time of
submission (fax: 617-525-4569). To avoid violation of HIPAA regulations, the
consent form should state that subjects understand that their identity (but not
their medical records) will be divulged to the AJHG office by the transmission of
the signed consent form. Alternatively, a letter from a member of your IRB can be
sent to us confirming that signed consent forms have been obtained from the
individuals pictured in the manuscript, without naming the individuals. Your
manuscript cannot be processed until we receive these consent forms or a letter
from your IRB.

All experiments on live vertebrates or higher invertebrates must be performed in
accordance with relevant institutional and national guidelines and regulations. In
the manuscript, a statement identifying the committee approving the experiments
and confirming that all experiments conform to the relevant regulatory standards
must be included in the Experimental Procedures section. The editors reserve
the right to seek comments from reviewers or additional information from authors
on any cases in which concerns arise.

Distribution of Materials and Data
One of the terms and conditions of publishing in the AJHG is that authors be
willing to distribute any materials and protocols used in the published
experiments to qualified researchers for their own use. Materials include but are
not limited to cells, DNA, antibodies, reagents, organisms, and mouse strains, or
if necessary the relevant ES cells. These must be made available with minimal
restrictions and in a timely manner, but it is acceptable to request reasonable
payment to cover the cost of maintenance and transport of materials. If there are
restrictions to the availability of any materials, data, or information, these must be
disclosed in the cover letter and the Material and Methods section of the
manuscript at the time of submission.
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Nucleic-acid and protein sequences, single-nucleotide polymorphisms (SNPs),
copy number variants (CNVs), microarray data, and macromolecular structures
determined by X-ray crystallography (along with structure factors) must be
deposited in the appropriate public database and must be accessible without
restriction from the date of publication. The URL of the databases used must be
included in the Web Resources section of the manuscript. All entry names and/or
accession numbers must be included in the Material and Methods section.
Microarray data should be MIAME compliant (for guidelines see
http://www.mged.org/Workgroups/MIAME/miame.html).

Newly described SNPs should be submitted to an appropriate database such as
dbSNP (http://www.ncbi.nlm.nih.gov/SNP/) prior to submission of revised
manuscripts. The identification numbers should be used to describe the SNPs in
the manuscript.

Please provide a figure or table that summarizes the full results of your genome-
wide scan.

In addition to the information that must be deposited in public databases as
detailed above, authors are encouraged to contribute additional information to
the appropriate databases. Authors are also encouraged to deposit materials
used in their studies to the appropriate repositories for distribution to researchers.

Clinical Trials
All clinical trials must be registered in a public trials registry. See http://jama.ama-
assn.org/cgi/content/full/292/11/1363 for guidelines.

Meta-analyses
All meta-analyses and systematic reviews of observational studies should comply
with MOOSE guidelines (http://jama.ama-assn.org/cgi/content/full/283/15/2008).

Computer Programs
Please provide a URL for the website upon which the novel computer program
described in your manuscript will be made publicly available.

Open Archive
All AJHG papers are freely available at www.ajhg.org starting 6 months after
publication. Pre-copyedited, accepted versions of each manuscript will be
submitted to PubMed Central 6 months after publication. Authors will have the
opportunity to edit the versions posted on PubMed Central.

Copyright
Upon acceptance of an article, authors will be asked to transfer copyright to the
American Society of Human Genetics. This transfer will ensure the widest
possible dissemination of information. A form facilitating transfer of copyright will
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be provided upon acceptance of the manuscript. After transfer of copyright,
authors retain rights as discussed below.

Authors' rights
As an author you (or your employer or institution) may do the following:

   ·   Make copies (print or electronic) of the article for your own personal use,
       including for your own classroom teaching use;
   ·   Make copies and distribute such copies (including through e-mail) of the
       article to known research colleagues, for the personal use by such
       colleagues (but not for commercial purposes as described below);
   ·   Post a revised personal version of the final text (including illustrations and
       tables) of the article (to reflect changes made in the peer review and
       editing process) on your personal or your institutional website or server,
       with a link (through the relevant DOI) to the article as published, provided
       that such postings are not for commercial purposes as described below;
   ·   Present the article at a meeting or conference and distribute copies of the
       article to the delegates attending such meeting;
   ·   For your employer, if the article is a `work for hire,' made within the scope
       of your employment, your employer may use all or part of the information
       in the article for other intra-company use (e.g., training);
   ·   Retain patent and trademark rights and rights to any process or procedure
       described in the article;
   ·   Include the article in full or in part in a thesis or dissertation (provided that
       this is not to be published commercially);
   ·   Use the article or any part thereof in a printed compilation of your works,
       such as collected writings or lecture notes (subsequent to publication of
       the article in the AJHG); and
   ·   Prepare other derivative works, to extend the article into book-length form,
       or to otherwise re-use portions or excerpts in other works, with full
       acknowledgment of its original publication in the journal.

All copies, print or electronic, or other use of the paper or article must include the
appropriate bibliographic citation for the article's publication in the AJHG.
However you should not indicate in the citation that the version that you are
reproducing or posting is the final published version. As an example, it may be
appropriate to indicate "This paper has been submitted to the AJHG for
consideration."

Commercial purposes include: the posting by companies or their employees for
use by customers (e.g., pharmaceutical companies and physician-prescribers);
commercial exploitation such as associating advertising with such posting
(including the linking to advertising by search engines); the charging of fees for
document delivery or access; or the systematic distribution to others via e-mail
lists or list servers (to parties other than known colleagues), whether for a fee or
for free.
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US National Institutes of Health (NIH) Posting Policy
AJHG facilitates author posting in connection with the voluntary posting request
of the NIH (referred to as the NIH "Public Access Policy," see
http://publicaccess.nih.gov/) by submitting all peer-reviewed authors' manuscripts
directly to PubMed Central six months after publication. This ensures that you will
have responded fully to the NIH policy and also the policies of other research-
funding organizations, such as Wellcome Trust and Howard Hughes Medical
Institute.

Permissions
If excerpts from other copyrighted works are included in your manuscript, you
must obtain written permission from the copyright owners and credit the sources
in the article. To obtain permission to use material from Cell Press and Elsevier
journals and books, e-mail permissions@elsevier.com. If you have adapted a
figure from a published figure, please check with the copyright owners to see if
permission is required and include a complete citation/reference for the original
article. Obtaining permissions can take up to several weeks. As lack of
appropriate permissions can delay publication, we recommend that you request
permission at the time of submission.


Prepublication Publicity

Work intended for submission to the AJHG, currently under consideration at the
AJHG, or in press at the AJHG may not be discussed with the media before
publication. Providing preprints, granting interviews, discussing data with
members of the media, or participating in press conferences in advance of
publication without prior approval from the AJHG editorial office may be grounds
for rejection. With regards to the scientific literature, papers in press in the AJHG
should not be discussed in reviews elsewhere prior to the date of publication.
Authors are welcome to present and discuss material intended for publication in
the AJHG at scientific meetings; however, we do require that they refrain from
discussing the findings with members of the press beyond those included in the
formal presentation. In addition, we encourage meeting organizers to contact our
editorial office in advance of a meeting if they have any questions regarding this
policy. Any questions or issues regarding prepublication publicity should be
directed to the Press Officer of Cell Press, Cathleen Genova
(cgenova@cell.com).

Interaction with Members of the Press for Papers in Press
Authors are free to talk with the press starting on the Friday of the week before
online publication and to release information provided that its use is embargoed
until noon Eastern Time on the day of online publication. We also allow authors
to discuss their work in press with other scientific journals for purposes of
coverage in review material. Please refer any inquiries from other journals to us.
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If your press office wishes to issue a press release, they should contact us in
advance for final embargo information. Any questions or issues regarding
interaction with the press should be directed to the Press Officer of Cell Press,
Cathleen Genova (cgenova@cell.com).

Presubmission and Status Inquirires

Presubmission Inquiries
If you would like editorial input on whether your paper might be a strong
candidate for consideration at the AJHG, you can submit a presubmission inquiry
to ajhg@ajhg.net. This should include an abstract plus a brief description of the
results and an explanation of the interest and significance to the broad
readership of the AJHG. We try to respond to inquiries within 2­5 days.

Status Inquiries
Editorial Manager identifies the status as "with editor" until a decision is made. If
you would like more information about the status of your submitted manuscript,
please email ajhg@ajhg.net.

Manuscript Formats

Articles, Reports, Letters to the Editor, and Errata are all handled through our
online submission system, Editorial Manager, at http://www.edmgr.com/ajhg. A
brief description of each article type is provided below. Please refer to
Preparation and Online Submission of Research Manuscripts for detailed
information about the organization of research articles and their submission.

Articles
Articles are full-length, original research articles and should include the following
sections: Abstract, Introduction, Material and Methods (or Subjects and
Methods), Results, and Discussion.

Reports
Reports are short (approximately four printed pages, at about 900 words per
page) scientific correspondence with an Abstract but without further subdivision
of the manuscript. This category is designed for timely publication of original
findings that may substantially impact their field.

Letters to the Editor
Letters to the Editor are brief commentaries (less than one printed page, at about
900 words per page) concerning manuscripts published in the AJHG within the
past four months. They may also present new data. Any letter concerning a
previously published manuscript will first be sent for external review to determine
whether it meets an appropriate level of significance for publication in the AJHG.
If the letter achieves this standing, it will then be sent to the corresponding author
of the pertinent manuscript, who will be given an opportunity to submit a
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response. This response will be provided to the corresponding author of the
Letter to the Editor. After considering the response, the authors may choose to
withdraw their letter or to proceed with publication without further revision.

Preparation and Online Submission of Research Manuscripts

Overview
The AJHG encourages authors to submit manuscripts via our online submission
system, Editorial Manager (http://www.edmgr.com/ajhg). An author tutorial
regarding online submission is available at the Editorial Manager website.
Authors may contact the editorial office (ajhg@ajhg.net or 617-525-4770) for
assistance. If online submission is not possible, a copy of the manuscript may be
sent to Editor, AJHG, NRB 160A, 77 Avenue Louis Pasteur, Boston, MA 02115,
USA. Please include a CD with electronic files of text and figures in the
acceptable formats (see below).

Editorial Manager will prompt you to upload the individual components of your
manuscript (cover letter, text, figures, supplemental data, etc.) as separate files.
Upon completion of this step, the website will build a composite PDF file of your
entire manuscript that will contain links for the editors and reviewers to download
the individual high-resolution files of each component. Please note that the
version of the PDF file that is accessible to reviewers does not contain the cover
letter; any information therein will remain confidential.

Please be aware that Editorial Manager will send all communications about the
paper (including the request for final approval and the confirmation of
submission) to the individual designated as corresponding author during the
submission process, or if no name is designated, to the individual whose account
is used to submit the manuscript. If you wish to specify a different author for
editorial correspondence after submission please contact the Editorial Assistant
at ajhg@ajhg.net.

Cover Letter
Each submission should be accompanied by a cover letter, which should contain
a brief explanation of what was previously known, the conceptual advance
provided by the findings, and the significance of the findings to a broad
readership. A cover letter may contain suggestions for appropriate reviewers and
up to three requests for reviewer exclusions. The cover letter is confidential to the
editor and will not be available to reviewers.

Also, indicate in the cover letter whether the first author is a student or
postdoctoral fellow and a member of The American Society of Human Genetics
(to be eligible for the Cotterman awards, presented at the annual meeting of the
ASHG).

General Article Organization and Text Specifications
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AJHG manuscripts generally contain the following sections in this order: Title
Page including Authors, Affiliations, Contact Information, and Footnotes (if any);
Abstract; Text (which, in articles, should be separated into Introduction, Material
and Methods, Results, and Discussion); Acknowledgments; References; Figures
and Tables, with titles and legends for each; and Supplemental Data. The text
(Title through Legends) should be provided as one document, which may also
contain the Tables. Figures and Supplemental Data should be provided
separately.

For human genes, use genetic notation and symbols approved by the HUGO
Gene Nomenclature Committee (HGNC). Approved gene symbols may be
obtained, prior to submission, from the HGNC via their Web site
(http://www.genenames.org) or by contacting HUGO Gene Nomenclature
Committee (HGNC), European Bioinformatics Institute (EMBL-EBI), Wellcome
Trust Genome Campus, Hinxton, Cambridgeshire CB10 1SA, United Kingdom
(fax: 44-1223-494-468; e-mail: hgnc@genenames.org). Nomenclature guidelines
are available and the Gene Name Proposal form may be completed on the
HGNC Web page (http://www.genenames.org/cgi-bin/hgnc_request.pl). See
Wain et al. "Guidelines for Human Gene Nomenclature" (Genomics 79:464-470,
2002).

Use ISCN nomenclature for cytogenetic notation (see Shaffer LG and Tommerup
N [eds] ISCN 2005:An International System for Human Cytogenetic
Nomenclature. S. Karger, Basel, [www.karger.com/ISCN]). Human gene names
and loci should be written in italicized capital letters and Arabic numerals. Protein
product names are not italicized. For human mutation nomenclature, see
Antonarakis et al. "Recommendations for a Nomenclature System for Human
Gene Mutations" (Hum Mutat 11:1­3, 1998)
(http://www3.interscience.wiley.com/cgi-bin/fulltext/5001291/ PDFSTART).
Approved mouse nomenclature may be obtained, prior to submission, from the
Mouse Genomic Nomenclature Committee (MGNC), telephone: (207) 288-6429;
fax: (207) 288-6132; e-mail: nomen@informatics.jax.org; web page:
http://www.informatics.jax.org/mgihome/nomen/. For other organisms, consult the
appropriate authorities.

Pedigrees should be drawn according to published standards (See AJHG 1995
56:745-752).

MIM numbers should be listed in the text, but not the abstract, after the first
mention of the relevant disorder or gene. Example: adrenal hypoplasia congenita
(AHC [MIM 300200]). In the Web Resources section, only the URL for the OMIM
database, and not the individual MIM numbers, should be noted. Example:
Online Mendelian Inheritance in Man (OMIM),
http://www.ncbi.nlm.nih.gov/Omim/.

Nonstandard abbreviations should be defined when first used in the text. Use of
abbreviations should be kept at a minimum.
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Manuscript file types acceptable for submission include Word, LaTeX, RTF, and
TXT. Required items differ for each article type and are specified during the
submission process.

Please note that the text should be double spaced and pages should be
numbered. If using Microsoft Word, insert line numbers (under the Layout option
of the Page Setup menu) for ease of reviewer reference. Although abstracts
need to be entered as text files separate from the body of the manuscript during
the online submission process, they should also be included within the
manuscript file.

Manuscripts that do not conform to the format guidelines may be returned
to the authors for reformatting.

Preparation of Specific Sections
Title
Titles can occupy no more than three lines of type. Each line should contain no
more than 54 characters, including spaces. The title should convey the
conceptual significance of the paper to a broad readership.

Authors/Affiliations
Author names should be spelled out rather than set in initials. Authors should be
footnoted to corresponding affiliations. Affiliations should contain the following
core information: department(s)/subunit(s); institution; city, state/region, postal
code; country.

Contact
The contact line should include the email address and phone/fax numbers of the
corresponding author. The published corresponding author is responsible for
ensuring adherence to all editorial and submission policies and for any
communications that may result post-publication. Only one corresponding author
may be designated.

Equal Contribution
Joint authorship is permitted only for the first author position, with a maximum of
two individuals being given this designation.

Additional Footnotes
Footnotes are only allowed on page 1 of the text (and in tables). They may
include a present address for authors or statement of equal contribution to the
manuscript.

Abstract
The Abstract consists of a single paragraph of fewer than 250 words. It should
clearly convey the conceptual advance and significance of the work to a broad
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readership. In particular, the Abstract should contain a brief background of the
question, a description of the results without extensive experimental detail, and a
summary of the significance of the findings. References should not be cited in the
Abstract.

Introduction
The Introduction should be succinct, with no subheadings, and should present
the background information necessary to provide a biological context for the
results.

Material and Methods
The Material and Methods section needs to include sufficient detail so that
readers can understand how the experiments were performed, and so that all
procedures can be repeated, in conjunction with cited references. This section
should also include a description of any statistical methods employed in the
study.

Results
This section may be divided with subheadings. Footnotes should not be used
and will be transferred to the text.

Discussion
The Discussion should explain the significance of the results and place them into
a broader context. It should not be redundant with the Results section. This
section may contain subheadings.

Acknowledgments
This section may acknowledge contributions from non-authors, list funding
sources, and should include a statement of any conflict of interests. This section
should be proofread carefully, as amendments or corrections are unlikely to be
considered for publication as Errata. This section may be used to list the
contributions of individual authors.

Appendices
Detailed results of statistical analyses may be presented as an Appendix

Web Resources
Please provide accession numbers for data deposited in any genome or locus-
specific database. (See Distribution of Materials and Data above for required
databases.) The name of the database should be given in the text, and the
database is listed along with its URL in a separate section entitled "Web
Resources," following the Acknowledgments. URLs are not to be included in the
text. For all computer programs, please provide a URL for the website upon
which the novel computer program described in your manuscript will be made
publicly available.
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References
References should include only articles that are published or in press.
Unpublished data, submitted manuscripts, abstracts, and personal
communications should be cited within the text only. A personal communication
should be documented by a letter of permission. Submitted articles should be
cited as unpublished data, data not shown, or personal communication. Note: "et
al." should only be used after 10 authors. Please use the following style for
references:

Article in a periodical: 1. Sondheimer, N., and Lindquist, S. (2000). Rnq1: an
epigenetic modifier of protein function in yeast. Mol. Cell 5, 163-172.

Article in a book: 2. King, S.M. (2003). Dynein motors: Structure,
mechanochemistry and regulation. In Molecular Motors, M. Schliwa, ed.
(Weinheim, Germany: Wiley-VCH Verlag GmbH), pp. 45­78.

An entire book: 3. Cowan, W.M., Jessell, T.M., and Zipursky, S.L. (1997).
Molecular and Cellular Approaches to Neural Development (New York: Oxford
University Press).

Figure Legends
Legends should be included in the submitted manuscript as a separate section.
Each figure legend should have a brief title that describes the entire figure
without citing specific panels, followed by a description of each panel. For any
figures presenting pooled data, the measures should be defined in the figure
legends (for example, data are represented as mean +/- SEM).

Tables
When creating a table, please use the Microsoft Word table function and do not
place an Excel table in a Word document. Word tables should not be tab or
space delineated and should not use color. Tables should include a title, and
footnotes and/or legends should be concise. Use superscripted lowercase letters
(beginning with `a') for footnotes in tables. Include tables in the submitted
manuscript as a separate section. Tables should not be saved as figures, i.e. as
.jpg or .tif files. Tables not created with the Microsoft Word table function will
need to be revised by the author.

Supplemental Data
Supplemental data are restricted to (1) figures that cannot be rendered in print
with enough detail to be informative, (2) tables that have too many columns
and/or rows to fit across two printed pages, and (3) tables and figures that would
substantially lengthen the print version of the manuscript. Additional text will not
be allowed as supplemental data. Supplemental Data should be provided with
the original submission. Please follow the digital figure guidelines below for
preparing figures. In general, supplemental files (movies, databases, tables, etc.)
must each be less than 10 MB. All figures and tables should have titles and
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legends. Every attempt should be made to submit the Supplemental Data in a
composite Word file.

Supplemental Movies and Excel Spreadsheets
Supplemental movies may be submitted through Editorial Manager as .mov, .avi,
.mpeg, or .gif files. By choosing the submission item "Supplemental Movies and
Spreadsheets," the PDF builder will imbed links within the PDF where editors and
reviewers will be able to download the files. This also works for Excel files that do
not display properly once converted to a PDF. Please note that the size limit for
these items is 10 MB per file.

If you have supplemental movies or spreadsheets over 10 MB in size, we ask
that you send the files on CD to our offices at AJHG, NRB 160A, 77 Avenue
Louis Pasteur, Boston, MA 02115, USA.

Figure Organization, Formats, and Style

Figures must conform to the following guidelines or authors will be asked to
revise them. For figures that have multiple panels, the labels should be set in
uppercase Helvetica or Arial letters and should not contain periods or
parentheses. Please be sure to embed all fonts. Each figure must be assembled
into one file that prints onto one 8 1/2 × 11 page. Please do not include separate
panels on multiple pages. Micrographs should be provided with a scale bar, if
appropriate, instead of magnification.

Acceptable Image Formats for Online Submission:

   ·   TIFF (.tif)
   ·   Portable Document File (.pdf)
   ·   JPEG (.jpg) ­ use maximum quality

Please note that we cannot accept PowerPoint, Adobe Photoshop, or
Adobe Illustrator files for online submission through Editorial Manager.
These files must be converted to one of the above file types. Converting
PowerPoint files frequently results in unexpected changes to the figures (e.g.,
missing or shifted text; shifted image elements). We recommend that you not
create figures in PowerPoint. If you do try to convert from PowerPoint to one of
these file types, be very careful to compare the final version to your original.

We also cannot accept image files in Canvas, Freehand, or Microsoft Word
or Excel.

TIFF Files (.tif)
TIFF is our preferred format.

Postscript Files (.ps)
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There are many different drawing programs, not all of them supported by the
software we use. From almost all of these programs, you should be able to
produce a postscript file. When printing, select to print to a (postscript) file, rather
than printing by default to a printer. The image must be in portrait orientation.
Please be sure to embed all fonts when you save as a postscript file.

Resolution Requirements
For black and white photographs or micrographs and for any type of graph or
drawing in grayscale, the resolution of your file should be a minimum of 500 dpi.
For figures that contain color, the resolution should be a minimum of 300 dpi.
Please note that figures should meet these resolution numbers at their
approximate print sizes.

Color Images
We encourage authors to use colors that can be distinguished by color-blind
readers. Please submit your figures in RGB or grayscale -- do not convert your
files to CMYK. This will optimize their appearance online. However, please be
aware that we will convert to CMYK for the print version. If possible, embed the
ICC profile.

Line Weights
Please make sure that all graph lines, error bars, and outlines are at least ½
point in weight. Lines that are less than ½ point may disappear or be broken
during printing.

If you have any questions about digital files, please contact Kerry Evans, Senior
Issue Manager of AJHG at kevans@cell.com.

Submission of Revised Manuscripts
In addition to the sections described above, revised manuscripts must also
contain a detailed point by point response to the comments of the reviewers
and/or editors. The cover letter should briefly summarize how the revised
manuscript addresses these comments. All changes to the manuscript should
also be highlighted using the Track Changes feature in Microsoft Word. In
general, revised manuscripts will be reconsidered only if resubmitted within four
weeks of the date of the original decision.

Checklist for Final Submission

In order for a paper to be accepted and scheduled for publication, the author will
be asked to send the following items. Please refer to the letter from your editor
for further details and to the additional guidelines below for final figures.

1. Please make sure your final manuscript:
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   ·   Includes database accession numbers for new SNPs, gene sequences,
       protein sequences, copy number variants, microarray data, or structures
   ·   Includes all HUGO-approved gene names as well as all MIM numbers for
       all relevant disorders or genes
   ·   Includes explanation of statistical methods in the Material and Methods
   ·   For any figures presenting pooled data, definitions of the measures within
       the figure legends
   ·   Includes experimental procedures of sufficient detail
   ·   Includes author and affiliations lists with superscripted numbers
   ·   Includes concise titles for figures and tables

2. Please submit the final version of text and figures through our online
system.

3. Please send to us:
On a single CD:
Any additional supplemental data larger than 10 MB.

Figure Formats Acceptable for Publication

   ·   TIFF (.tif)
   ·   Encapsulated Postscript (.eps)
   ·   Postscript (.ps)
   ·   Portable Document File (.pdf)
   ·   JPEG (.jpg) ­ use maximum quality
   ·   PhotoShop (all versions) (.psd)
   ·   Adobe Illustrator (all versions) (.ai)

   Please note that we cannot accept PowerPoint files. (See note under
   Figure Organization, Formats, and Style above).

File Naming
Please name files by first author and number of figure, e.g., Smith1.tif, Smith2.tif,
etc.

Production and Proofs
After final acceptance, the manuscript will be passed to the production team to
be copyedited and prepared for printing. Members of the American Society of
Human Genetics will not be charged page charges or color charges. Non-
member authors will be charged $450 for the first color figure and $200 for each
additional color figure. In lieu of a per page fee, non-members will be charged a
single fee of $825 for Articles and $525 for Reports. Figures may be resized
during the production process.
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PDF proofs will arrive via email about 2 weeks prior to publication and need to be
returned with corrections no more than 24 hours after receipt.

Contacts at AJHG

Presubmission inquiries: ajhg@ajhg.net

Assistance with online submission: 617-525-4770 or ajhg@ajhg.net

Status inquiries about submitted papers: ajhg@ajhg.net

Production inquiries: Kerry Evans, Journal Manager: kevans@cell.com

Prepublication publicity and press issues: Cathleen Genova, Press Officer,
cgenova@cell.com

Permissions: permissions@elsevier.com