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Abstract Closing Date - 5th September 2018

The Human Genome Variation Society invites abstracts to the meeting within the theme of Leveraging the Electronic Medical Record for Genomic Interpretation.

General variation themes e.g. methods, applications, databases etc. will also be considered however they are most likely to be accepted for poster presentation if there is not enough space in the program.   Abstracts within the theme of "Leveraging the Electronic Medical Record for Genomic Interpretation" will be given preference for oral presentations.

Please follow the instructions for preparation below.



3 steps to sucessful abstract submission:

  1. Save your file with your surname followed by your first name initial, e.g. Layra Palkar's abstract would be saved as palkarL. Please DO NOT name your abstract "hgvs abstract", "abstract" , "sandiego abstract" etc.
  2. EMAIL your abstract as a word file to Rania - rania (at) Make sure to include a small cover letter such as "I wish to submit this abstract for the HGVS San Diego meeting". Rania receives abstracts for many meetings so it is important you say which one. Emails received with no cover letter will be treated as viruses and not be opened.
  3. Expect a reply that the abstract was received within 3 days (usually by the next day). If you do not receive a reply, please send it again. Please do not expect an immediate response, as a human being will answer not a computer auto mail.


Please take special note of the text formatting instructions & submission guidelines below.


1. Authors of research papers who wish to have their abstracts considered for inclusion in the scientific programs must submit their abstract via EMAIL having regard to the closing dates. Abstracts submitted after the closing date of 30th August 2018 will not be considered.

2. The detailed formatting instructions below must be followed for the abstract to appear in the program book.

3. The title should be brief and explicit.

4. Including title, authors (full given first name and family name) and institution, the abstract should not exceed 520 words.  Any references or acknowledgments must also be included in this allowance.

5. The acceptance, timing, presentation and discussion of all papers and posters is at the discretion of the Scientific Programme Committee. Notification of the timing of presentations will appear in correspondence sent to all successful authors.

6. Please format & submit your abstract according to the below instructions.

7. AUTHORS MUST BE FULLY REGSITERED FOR THE MEETING BY 30th Septebmer 2018 FOR THEIR ABSTRACT TO APPEAR IN THE PUBLICATIONS. We DO NOT publish abstracts from anyone not fully registered or attending the meeting.


  • Manuscripts should be submitted in Word docx, or doc
  • Maximum of 520 words
  • Use a simple font (e.g., 10-point Arial) for text
  • Headings should be bold and 14 point and small case letters
  • Authors in Italics. Please underline the presenting author.
  • Please give full addresses of all authors (without titles i.e. Dr etc) after the heading and put in italics.
  • Please indicate the name of the corresponding author by an asterisk*.
  • The Email of the corresponding author should be included below the addresses.
  • Use italics for emphasis
  • Do not use field functions
  • Please turn OFF your track changes
  • DO NOT JUSTIFY the text
  • Use tab stops or other commands for indents, not the space bar.
  • Include a space when starting a new paragraph
  • 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.
  • Abbreviations should be defined at first mention and used consistently thereafter.
  • Acknowledgments of people, grants, funds, etc. should be placed in a separate section before the reference list. The names of funding organizations should be written in full.
  • Please always use internationally accepted signs and symbols for units, SI units.
  • URLs of all databases referenced should be included.
  • Do not include diagrams and tables, we cannot print them
  • Nomenclature for mutations must follow HGVS guidelines
  • Nomenclature for genes must follow HGNC guidelines