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Educational Material#

A detailed explanation of HGVS nomenclature can be found on this website. Summaries, using different formats, have been published in journals and several book chapters (see History).

  • Basics
    the basics of the current recommendations are explained in a slide presentation from Johan den Dunnen (last updated Apr.2017).

  • Facebook
    topics of interest are regularly discussed on the HGVS nomenclature facebook page. The HGVS nomenclature facebook agenda can be used to see where the recommendations are presented/discussed.

  • Online sessions
    In June 2021, we started a series of online HGVS nomenclature Q&A sessions. The meetings will be bi-monthly, on the 4th Tuesday of every 2nd month (even months). The time of the meeting will be alternated to allow people from either Asia+Australia, Europe+Africa, or North+South America to participate during the day. For questions to be answered we use the DirectPoll online polling system. The idea is for you to train yourself and learn HGVS nomenclature by applying the recommendations. For those not able to participate, the questions will be available using a Socrative classroom (see below). Each event will be listed on the Human Genome Organisation's (HUGO) Facebook page.

  • Test your knowledge
    testing your knowledge of the current recommendations can be done using Question & Answer tests we make available through the Socrative platform. To try, either download the Socrative Student App or use the Socrative website and Login as a Student. When asked, go to a specific classroom and give it a try.

  • HGVSonline - Q&A from our past bi-monthly online sessions

    • HGVS online session 1 (June 2021): HGVSonline
    • HGVS online session 2 (August 2021): HGVSonline2
    • HGVS online session 3 (November 2021): HGVSonline3
    • HGVS online session 4 (Jan 2022): upcoming
    • HGVSmutnomen: in the HGVSmutnomen classroom you find a series of older HGVS nomenclature questions.

When you have made educational or training material or know of others who did so, please let us know!!