Deadline for comments - Friday 30th July- comments to VarNomen@HGVS.org">VarNomen@HGVS.org

Thank you
On behalf of the Sequence Variant Description Working Group,
Johan den Dunnen (chair)

On June 22, we started an experiment, an online HGVS nomenclature session. We thank those who dared to attend the first session; there is always the danger of technical issues. But not this time, everything went smoothly. We had a mix of experienced users and nomenclature beginners who enjoyed the chance to practice and discuss relevant nomenclature issues.
 
The session started with a brief welcome from Johan den Dunnen, chair of the HGVS nomenclature committee. Next, were a series of prepared questions for the participants to answer using the DirectPoll system. Participants were able to see each other’s answers anonymously. After each question, the answers were revealed and explained. Was it easy? Certainly not. One question in particular was answered incorrectly by all, even from the experienced users of the group. But this is why we wanted to hold these sessions, giving people a chance to practice and discuss in a safe environment. After the prepared questions, there was time for participants to ask specific questions directly.
 
For those interested to give it a try, the Q&A session is available using Socrative, classroom HGVSonline (https://api.socrative.com/rc/ibPQGW).
 
 
Our next session will take place on Tuesday 24^th August, at 3pm UTC. We have alternated the timings of each session to accommodate all time zones. For your time zone, please click here. 
 
To register for the next session, please click here. You can also see this event listed on the Human Genome Organisation’s(HUGO) Facebook page. We record the meeting for those not able to join. 
 
 
The questions from the Q&A session will be taken from those we receive daily and be a mix of simple and more complex cases. The idea is that you train yourself and learn HGVS nomenclature by applying the recommendations. For those not able to participate, the questions will be available afterwards using the Socrative platform (www.Socrative.com, classroom to be announced).  For the 'questions from participants' session, everybody is encouraged to send questions to VarNomen@HGVS.org so we can prepare. Of course, we will also allow you to ask questions 'live'.
 
 
If you have any comments, suggestions or questions you would like answered for these sessions, please let us know. 
 
Interested to support the HGVS nomenclature work? Please consider sponsoring one of the bi-monthly meetings. For details, please contact amy@variome.org">amy@variome.org. Of course, we will acknowledge sponsorship in advertisement and during the meeting.
 

 

UNESCO Online Database Training Course

Financially supported by a grant from UNESCO, Global Variome is organising an "Online training course in curation of human gene/disease databases". Interested students from all over the world applied earlier this year. A Global Variome committee has now selected the 16 participants that are allowed to enter the course. Selected participants come from 12 different countries: Argentina, Cameroon, Egypt, Ethiopia, India, Malaysia, Mexico, Nigeria, Romania, Senegal, Turkey and South Africa.
 
The online training sessions will be held on Mondays over the next few months. To accommodate the 13-hour time difference between the participant's home countries, there will be alternating morning and afternoon sessions (based on UTC). Sessions will be recorded and made available for the participants who are unable to join. Between sessions participants will have to complete specific tasks focussing on a gene/disease they have selected. At the end of the course the participants will be curator for one of the genes in the "Global Variome shared LOVD" (http://databases.lovd.nl/shared">http://databases.lovd.nl/shared). The first session will start July 19, 8 am (UTC).

SVD-WG: thank you Donna Maglott!

The HGVS nomenclature committee, the Sequence Variant Description working group (SVD-WG), is a group of experts guarding the nomenclature recommendations. The committee currently exists of eight members and three observers (representing HGVS, GV/HVP and HUGO). Until now, membership of the committee has been assigned on an ad-hoc basis. The plan is to make membership of the HGVS nomenclature committee a more open process where candidates apply for membership and committee members serve a specified term time. The plan is to start this process
later in the year, under the umbrella of the new HUGO, where the three organisations supporting the HGVS nomenclature have started to collaborate more closely.
 
Donna Maglott (NCBI) has recently decided to step down as a member of the SVD-WG. Donna will be replaced by Terence Murphy (NCBI). From the start, Donna has been a very active and responsive member of the SVD-WG. Her input, expertise, commitment to standards, spirit of collaboration and the discussions within the committee have always been appreciated. Donna made essential contributions to the HGVS nomenclature recommendations as they are now. These recommendations are not perfect, they will probably never be, but they are of very high quality, serve a need and this is why they are applied as THE standard world-wide, especially in a diagnostic setting. Donna can be proud on having played an essential role towards this achievement.
 

 

"This year's presentations will cover themes from the use of genomic data in personalized medicine and applications in healthcare, pharmacogenomics, regulatory genomics and molecular functions, population genomics and human microbiome interactions. Given the situation in the world, this year's Gene Forum will also have a session on COVID-19 research."

For more information, see the event page
 

Earlybird registration ends 19th of July so register now to make a saving!

This year the course will be an immersive virtual experience and will take place from the 21st to the 23rd of September 2021.  Core topics will be delivered live with ample opportunity for Q & A; some topics will be on-demand.  

Participants will have access to recordings after the course.

Expected Participants are people working in a DNA laboratory including clinical diagnostic labs involved in DNA sequencing data analysis.

VEPTC 2021 will be a fully immersive virtual event using the Attendify platform.
 

The course will include:

• Variants in the genome, position & possible consequences
• NGS: what method to apply (gene panel, WES or WGS) and where technology fails
• NGS limitations: sequencing technologies / calling variants (SNV+CNV+SV)
• CNV calling/ analysis: applications and challenges
• SNV calling/ analysis: applications and challenges
• HGVS Nomenclature; describing variants
• Human Phenotype Ontology (HPO)
• Integration of phenotypic and genomic data to diagnose patients with rare diseases 
• Annotating variants
• Variant Classification (ACMG recs.)
• Prediction tools
• Ensembl Genome Browser
• UCSC Genome Browser
• Future developments
• Qiagen variant interpretation workshop
• & more…

VIEW THE PROGRAM HERE: https://veptc.variome.org/program.html 

We invite you to register, and submit an abstract for consideration as a virtual poster (only if you wish) and look forward to your participation.  

REGISTER HERE: https://veptc.variome.org/registration.html

Further details about the event may be found on the website:  veptc.variome.org

For more information, see the event page