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GV Newsletter - June 2021


https://twitter.com/humangenomeorg/status/1400363296725819392
 
Complete Human Genome Sequence

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On June 26, 2000, the draft human genome sequence was announced. 21 years later, on May 27, 2021, the Telomere-to-Telomere (T2T) consortium has completed the human genome sequence! The remaining 8% of missing genetic data was added, capping the full sequence at 3.055Bbp!

Read the fill article here:
https://www.biorxiv.org/content/10.1101/2021.05.26.445798v1
 
 


NEW - HGVS nomenclature Q&A session
 
We receive a lot of questions regarding HGVS nomenclature. Currently, these questions are all answered by private e-mail, with some examples published on the nomenclature Facebook page

In order for users to gain real practical experience carrying out nomenclature tasks, we are going to try something NEW:
 
.
 
            bi-monthly online HGVS nomenclature Q&A sessions
 
The first meeting will take place on June 22, 8:00am GMT (check your own time zone here)
 
The meetings will be bi-monthly, on the 4th Tuesday of every 2nd month (even months). We will alternate the time of the meeting in order to allow people from either Asia+Australia, Europe+Africa or North+South America to follow the meeting during the day. We plan to record the meeting for those not able to join.
 
Meetings will take 60 minutes and have a standard format:
1) Short welcome (5 min)
2) Participants answer questions (35 min)
3) Questions from participants (15 min)
4) Close of meeting

For questions to be answered by participants we will use an online polling system (DirectPoll).  Questions 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'.
 
 
For HUGO members, participation will be free. Details for non-members to join will be shared later. To register your interest, please contact amy@variome.org
 
Interested to support the HGVS nomenclature work? Please consider sponsoring one of the bi-monthly meetings. For details, please contact amy@variome.org. Of course, we will acknowledge sponsorship in advertisement and during the meeting.

 
 


For more info click here
 
 


It's not too late to sign up to our Scientific Conference: Data Insights in a Pandemic. Taking place on 23rd June, the #HDRSciCon will be an exciting full day virtual event showcasing the latest advancements in health data science. 

 
 
 
https://www.ivvy.com.au/campaign/link/process/id/6e7fd0cc6cedef3f9014ed9e963270da/s/9c7b38a1e5345caad81d3f21e989566a/account/613/report/56626">VEPTC 2021 IMAGE
https://www.ivvy.com.au/campaign/link/process/id/6e7fd0cc6cedef3f9014ed9e963270da/s/9c7b38a1e5345caad81d3f21e989566a/account/613/report/56626">VEPTC2021 image

Don't miss your opportunity to learn - attend VEPTC 2021!

We are excited to announce that the next Variant Effect Prediction Training Course is now open for registration!

This year the course will be an immersive virtual experience and will take place from the 21st to the 23rd of Sept. 2021.  Core topics will be delivered live with ample opportunity for Q & A; some topics will be on-demand.  We invite you to register, and submit an abstract for consideration as a virtual poster (if you wish) and look forward to your participation.   

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

To find out more please visit the website.
 

https://www.ivvy.com.au/campaign/link/process/id/1563aad3abdcceee0a9041ea7b904843/s/9c7b38a1e5345caad81d3f21e989566a/account/613/report/56626">REGISTER NOW

 
 
illumina logo

Sponsored by Illumina Workshop

 

 
Join Us @ VEPTC 2021
 
 
 


We go virtual in 2021! EHTG's 5th Meeting was cancelled because of the Covid-19 pandemic. This year we are back and will host our annual Meeting on October 8 and 9 2021 as an online congress
 
You can already register for the event or become a member and enjoy complimentary registration for the meeting. Abstract submission is now open.
 
 
 
 


We welcome you to the 14th International Congress of Human Genetics (ICHG2022) to be held in Cape, South Africa, proudly hosted by the African Society of Human Genetics (AfSHG) and the Southern African Society for Human Genetics (SASHG).
 
Taking into account the COVID-19 pandemic, we are formally sharing the news that the ICHG will be postponed to 13 – 17 February 2022.
 
Warm regards
Raj Ramesar and Charles Rotimi
(Co-Chairs LOC/ICHG 2021)
 
 
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