Blog

In March 2018, for the first time, HVP worked with HUGO to run a scientific meeting. Many members say that they have limited time to attend scientific meetings and want to have access to one good quality international meeting each year. With this in mind, HVP offered two key sessions profiling advances in variant collection and curation through HVP’s project-wide initiatives including BRCA, Haemoglobinopathies, familial heart and the use of LOVD. For more information on these sessions CLICK HERE.  Many issues were raised in discussion at the meeting and these will be taken up by  HVP’s various councils and committees.   
 

Ingrid Winship (GV Director & ISAC Member) and Martina Witsch-Baumgartner (ICCAC Chair, ISAC Member & GDSDBAC Member)

You may be aware that LOVD is undergoing some organizational changes to ensure its sustainability and will be moving under the auspices of the HVP (Human Variome Project).  As part of this, we are planning to form a user group aimed at involving LOVD users more directly in its development whilst providing more training and support for users.  The use of LOVD has once again grown rapidly in the past year with many more users, so it seems a good time to do this.

We are hosting a meeting at ESHG in Milano on 18 June 16:00 to 18:00 (Yellow Room) to provide an overview of LOVD and the plans for its development in coming months. We will also introduce a new LOVD User group which may be of interest to you.

I hope that you can join us there.

If you are not planning to be at ESHG but are interested in knowing more or being involved in the group, please send a message to 

LOVDusergroup@LOVD.nl

Please note that we will be planning a similar session at ASHG in October; those of you not in Europe may find this more convenient.

Best wishes,

Johan den Dunnen


Click here for more

ESHG, Milan 2018 - HGVS Nomenclature Course

Friday June 15, Milan (Italy)
Teach the Teacher:  HGVS nomenclature
 

A course on HGVS nomenclature, organised with financial support of the European Society of Human Genetics (ESHG), in collaboration with the Human Variome Project (HVP and the ESHG Education Committee.

HGVS nomenclature, currently supported by the HGVS, HVP, HUGO and GA4GH, is the language by which diagnostic reports as well as scientific reports on human genetic variation are drafted. Understanding this language and knowing how to use it is crucial for mutual understanding between geneticists and for the accuracy of diagnostic and scientific reporting in Human and Medical Genetics. A correct use of the HGVS recommendations prevents miscommunication and ensures that variants 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. i.e. the recommendations for the description of sequence variants (Den Dunnen et al., 2017, Hum.Mutat. 37:564; http://varnomen.HGVS.org). The course will have a “Teach the Teacher” format, i.e. after the course participants should be able to teach HGVS nomenclature to others. Registration to the course is free, but limited to 16-20 participants. Participants will be selected based on their willingness to act as a local (national) teacher and their expertise in the field. In addition we want to make sure participants are spread internationally, covering all continents on the globe.

The ESHG Education Committee will provide a number of fellowships to support participants to follow the course. Fellowships will preferably be awarded to participants from low and middle income countries (Central and Eastern Europe, Middle and South America, Africa, Middle East and Asia). The fellowships can be used as a contribution to cover travel expenses.

The entire course will be recorded (sound and/or video) and used to develop educational tools on HGVS nomenclature, including an e-learning module.
 

To register, please send a letter (max. A4, when larger it will be rejected automatically) with your contact details and your motivation. Applicants wishing to be considered for the fellowships should indicate this in their application, specifying how much financial support they will require to participate in the course.

ultimately April 20, 2018  to:

ESHG Education Committee

VarNomen@HGVS.org

Subject: HGVS course

Request for support - HGVS nomenclature

  
HGVS nomenclature is currently THE world-wide standard to describe changes in DNA, RNA and protein sequences used and supported by all major organisations/databases (HGVS, HVP, HUGO, NCBI, EBI, IRDIRC, ClinVar, LOVD, Decipher, COSMIC, etc.).
 
While this is a great achievement, facilitating standardised DNA diagnostics and variant research world-wide carries a heavy workload. More use leads to more questions to be answered. The demand for educational material and lately even a growing number of questions from the general public need to be actioned and the HGVS nomenclature web pages (http://varnomen.hgvs.org/) need to be kept up to date.
 
While we do our best to keep up with these demands, they have grown beyond our capabilities. We urgently need financial support.
 
Is your company willing to support our efforts? If so, we are willing to acknowledge this support on the variant nomenclature web page.
 

HVP VEPTC 2018

3rd Variant Effect Prediction Training Course

27th -30th August 2018
NUMed, Johor, Malaysia

Registration now open, click here

GG2020 2018 Conference -
Precision Medicine in Thalassaemia

7th & 8th July 2018 
Gurney Resort hotel and residences,
Penang, Malaysia. 

GA4GH 6th Plenary Meeting
3rd - 5th October 2018
Switzerland

Save the Date!

Save the Date!

http://3gb-test.eu/meetings/brazil/