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GV Newsletter - March 2022



We would like to invite you to attend the Human Genome Meeting (HGM 2022) The Next Frontiers in Genomics - which will take place at the Dan Panorama Hotel in Tel Aviv, Israel on May 23-25, 2022. This will be a hybrid meeting. HGM 2022 will have, with your help, a captivating program of plenary lectures, symposia, workshops, poster presentations, lectures and social events. Our scientific program will cover a wide range of topics in human genomics to share the most up-to-date research trends, results, information and databases, which often sparks off new collaboration opportunities.

We plan to create a memorable, extraordinary conference in Tel Aviv, which is considered to be the liveliest city in the region - The City that Never Sleeps. This will be the very first time that an HGM is held in Israel and we look forward to welcome its participants to Tel Aviv for an experience of a lifetime.

Our sessions will cover the following:

·         Genome organization & high-order interactions

·         Microbiome and the genome – where is the junction?

·         Biobanks, databases and impact on precision medicine

·         Convergence of genomics and immunology

·         Ancient human genomes

·         Cancer genomics

·         AI in health and medicine

·         Integrating metabolism and disease

·         Genetics and epigenetics of health and disease

·         Organoids, cell and gene therapy

·         Genomic ethics

More information, please visit:



While the HGVS variant nomenclature has been widely accepted as the de-facto standard for describing DNA sequence variants, its flawless implementation remains to be a problem. By our own experience collecting variants reported in the literature and importing these in LOVD, also recent publications can contain a large number of errors in the given variant descriptions. Existing variant validation tools such as Mutalyzer and Variant Validator do not implement all variant types supported by the HGVS nomenclature or sometimes provide quite cryptic error messages when the syntax isn't recognized, not directly indicating what needs to be corrected in the variant's description.
With the help of student Loes Werkman from the University of Applied Sciences Leiden, we have created an HGVS syntax validation aid for the LOVD software that:
- Supports nearly all variant types that can be described by the HGVS nomenclature, including variant types not always supported by other tools such as large CNVs with unknown breakpoints and other variants with uncertain positions, variants involving repeat sequences, methylation changes, mosaicism, and descriptions indicating that no change was found compared to the reference sequence;
- Recognizes common mistakes in these descriptions and provides clear error messages, suggesting corrections that users can easily accept by the click of a button;
- Recognizes previous HGVS recommendations and automatically updates the descriptions to the latest HGVS recommendations;
- Recognizes errors introduced by formatting documents in office programs or by journals and automatically fixes them;
- Forwards the (corrected or accepted) variant to Variant Validator for sequence-level validation and mapping.
During the research necessary for the development of this tool, several inconsistencies or errors on the HGVS nomenclature website have been reported and corrected. Also, since the new tool, especially when combined with sequence-level validation by Variant Validator, outperforms any other tool currently available, we have decided to provide a copy of it on the LOVD website for everyone to use freely. This version is still under development but should become available within the next few months.
Ivo Fokkema, Leiden Open Variation Database


New education web-pages on the HUGO website

With the help of Amy McAllister and HUGO Education committeecolleaguesProf Edward Tobias of the University of Glasgow (UK) has recently created and added a menu of educational pages to the HUGO International website.
The first of these new HUGO education pages is a page of education-related links for different audiences(including the general public, non-geneticist healthcare professionals, genetics professionals, universities and students, and schools). The links lead directly to the appropriate pages of Prof Tobias’s guide to 110 selected online genetics and genomics educational resources and databases. Peer-reviewed, and already endorsed and used by the European Society of Human Genetics (ESHG), has now been accessed from 128 countries. An additional link provided on the HUGOpage leads to the new Spanish-language version of the guide, which is currently also being professionally translated into in Portuguese.
The second new HUGO education page provides up-to-date links to the world’s principal professional genetics societies, arranged by continent and comprising many international societies not currently included in other such online directories.
A third HUGO education web-page provides links to a selection of current massive open online courses (MOOCs) on genetics and genomics. These have been sub-divided into those most suitable to genetics professionals and those best suited to other individuals, including the public.
These three new HUGO education pages have already been visited from at least 23 countries, most frequently from the UK, US, Germany, Spain, Czech Republic, Uruguay, India, Malaysia, Italy and Australia.
Ed Tobias is an author of educational genomics smartphone apps, MOOCs and textbooks and is an invited member of the HUGOESHGECMGG-examERN ITHACA APOGeEScotGEN and GMF-UK-Advisory-groupcommittees for international genetics and genomics education. He was the recipient of the ESHG Education Award 2021. He is happy to be contacted with comments or suggestions, at


Read the HGNC's Winter Newsletter for updates on our VGNC project, exciting gene therapy stories in “Gene Symbols in the News” and to play the symbol guessing game ‘Genele’


Please forward this email and programme to those in your network who may be interested in attending the symposium.To register please click the below link:
ISHG REGISTRATIONPlease refer to for regular updates on the conference programme and other conference related information.If you have any queries, or require any additional information, please do not hesitate to contact us.Yours in professional conferencing,Sarusha Padayachee
Registration Manager
+27 (0)71 679 2292



Human Cell Atlas Africa 2022 Symposium
21-22 March 2022
The Symposium aims to connect researchers and create opportunities for the formation of new groups and collaborations working on single-cell and spatial genomics, computational techniques, and other methods.Full details:


Genomics of Rare Disease – Wellcome Connecting Science

28–29 March 2022
Wellcome Genome Campus, UK

The 16th in Wellcome Connecting Science’s series of meetings on rare diseases will present an exciting blend of genomic science and clinical medicine. This meeting will explore how cutting-edge genomic research translates into clinical care and informs our understanding of the biology of rare disease.

This year’s meeting will discuss how the use of diverse genomes can help drive precision medicine and more equitable healthcare benefits. They will also focus on non-Mendelian forms of rare disease and new approaches to treat rare disease.  They will also discuss how high-throughput functional assays can improve the interpretation of variants and discuss the ongoing challenges and opportunities in implementing genomics in mainstream healthcare systems across the world.

Abstract deadline | 02 February 2022   |    Registration deadline | 22 March 2022

Full details –


GA4GH Newborn Screening Virtual Workshop

05 April 2022
VirtualOn 5 April 2022, initiatives from around the globe will convene for a virtual meeting of the Genomics in Health Implementation Forum (GHIF). This focused workshop aims to share the status of international efforts establishing genomic newborn screening programmes and identify areas for engagement with GA4GH Work Streams.Full details –


Primary Care and Public Health 2022
11-12 May 2022
Birmingham, UK

Primary Care and Public Health is a key annual event for GPs, federations, CCGs, primary care and community pharmacists, nurses, midwives, allied health professionals, and healthcare managers in primary care, community care, public and prison health.
Full details:


Digital Health World Congress 2022
17-18 May 2022
London, UK

We are excited to announce this year’s keynotes and speakers for at the annual conference Digital Health World Congress 2022 in London, UK. These include HUMA, Oracle, IBM, Google, ORCHA,Thrive Wearables and many more!Registration deadline | 17 May 2022
Full details:


Rare Disease Innovation & Partnering Summit
17-23 May 2022
Boston, USA (Hybrid)
Solution-focused strategies surrounding patient access, reimbursement, commercialization, launch, partnering and more in this unique, all-access format. Join experts across the rare disease community, in-person or virtually, to unite in areas of unmet medical need and create life-transforming therapies and breakthroughs.Full details:


International Data Week 2022
20-23 June 2022
Seoul, South Korea (Hybrid)
This landmark event will bring together data scientists, researchers, industry leaders, entrepreneurs, policymakers, and data stewards from disciplines across the globe to explore how best to exploit the data revolution to improve science and society through data-driven discovery and innovation. IDW 2022 combines the 19th RDA Plenary Meeting, the biannual meeting of this international member organization working to develop and support global infrastructure facilitating data sharing and reuse, and SciDataCon 2022, the scientific conference addressing the frontiers of data in research organized by CODATA and WDS.Full details:


We welcome you to the 14th International Congress of Human Genetics (ICHG2023) 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 22-26 February, 2023. 
Warm regards
Raj Ramesar and Charles Rotimi
(Co-Chairs LOC/ICHG 2023)







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