HGVS nomenclature workshop at HGM2019
Wednesday April 24, Seoul (South Korea)
Interested in HGVS nomenclature? Want to learn the basics? Want to increase your knowledge? Wiling to test your skills in describing variants?
Join us at the HGM2019 in Seoul for the HGVS nomenclature workshop!
HGVS nomenclature, the HGVS recommendations for the description of sequence variants, are currently supported by HGVS, HVP, HUGO and GA4GH. HGVS nomenclature is the language by which scientific papers and diagnostic reports describe genetic variation, variants in DNA, RNA and protein sequences. Understanding this language, and knowing how to use it, is crucial for mutual understanding between scientists and for the accuracy of scientific and diagnostic reporting. A correct use of the HGVS recommendations prevents miscommunication and ensures that variants are uniquely described and can be efficiently retrieved from existing data repositories facilitating variant annotation and classification.
The aim of the course is to give participants a detailed overview of the HGVS nomenclature (Den Dunnen et al., 2017, Hum.Mutat. 37:564, http://varnomen.HGVS.org). The course will start simple, gradually go deeper and be interactive, i.e. participants test their skills continuously. Both beginners and experienced users should receive useful information.
The workshop will be an e-workshop; all materials will be provided in electronic format only. Participants are requested to bring their own laptop, tablet or smart phone to be able to use the internet and try the exercises. Participants are encouraged to bring examples of cases where they doubt how to describe the variant correctly.
09.00 Welcome & Introduction
purpose of the nomenclature (standard), short history, terminology, Sequence Variant Description Working Group (SVD-WG), versioning, types of variants
09.30 The basics
reference sequences, IUPAC symbols, residue-numbering conventions, variant types, simple basic descriptions, symbols used, priorities, substitutions, online support tools
11.00 Deletions, duplications, insertions and other variant types
11.45 Description of variants at the RNA & protein levels
consequences resulting from changes in splicing and/or the open reading frame (missense, nonsense, frame shift)
12.30 Q&A, discussion, evaluation
Johan den Dunnen
chair HGVS SVD-WG (Sequence Variant Description Working Group)