HGVS nomenclature course @ ESHG 2018
Milan, Friday June 15, 2018
with the kind support of the European Society of Human Genetics
The HGVS nomenclature, currently supported by the HGVS, HVP and HUGO, is the sequence variant description language used in diagnostic reports, as well as scientific reports on (human) genetic variation. The course will cover the HGVS nomenclature in all its aspects and in considerable detail. The course will be a mix of presentations and discussions on specific topics, each concluded by a simple test answering questions on the HGVS nomenclature.
The course will be recorded and all course material will be used to develop an online course.
The course has a “Teach the Teacher” format, meaning that after the course, participants should be able, and are expected, to present courses on HGVS nomenclature themselves.
This course is an e-course, all materials will be provided in electronic format only. Participants are required to bring their own laptop to be able to use the internet tools suggested and to do the exercises.
(Milan, Friday June 15, 2018)
09.00 - 09.05 Welcome
09.05 - 09.30 Introduction
purpose of the nomenclature (standard), short history, terminology, Sequence Variant Description Working Group (SVD-WG), versioning, types of variants
09.30 - 10.00 Reference Sequences
the various reference sequence types (DNA, RNA, protein), versioning, LRG, IUPAC symbols, residue-numbering conventions
10.00 - 10.30 The basics
variant types, simple basic descriptions, symbols used, priorities, substitutions, on-line support tools
10.30 - 11.00 Break
11.00 - 11.45 Deletions, duplications and insertions
11.45 - 12.30 Other variant types
deletion-insertion, inversion, conversion, repeated sequences
12.30 - 13.30 Break for lunch
13.30 - 14.15 Alleles
14.15 - 15.00 Description of variants at the RNA & protein levels
consequences resulting from changes in splicing and/or the open reading frame (missense, nonsense, frame shift)
15.00 - 15.30 Break
15.30 - 16.15 HGVS/ISCN and complex variants
relationship between HGVS and ISCN, describing complex variants
16.15 - 17.00 Discussion, evaluation, certificate