Invitation to present HGVS at the NHS East Genomics Laboratory Hub

[MOORE, Benjamin (CAMBRIDGE UNIVERSITY HOSPITALS NHS FOUNDATION TRUST)]

Hi Johan,

 

I hope you’re doing well. I was happy to see that the VEPTC course went well this year! As you know, I am no longer at the EBI but I am now at the NHS, in the Education and Training team for the East Genomic Laboratory Hub. We provide the diagnostic genomic medicine service for rare disease and cancer across the East of England and East Midlands and I am responsible for the Education and Training of the laboratory staff in our region. I am currently organising a series of talks on a range of topics for our staff to learn more about the wider the wider genomic healthcare ecosystem, research and development as well as tools, methods and databases that they encounter in their work.

 

I think that the staff in our genomics laboratories would greatly benefit from a talk from you about HGVS nomenclature standards, examples and caveats etc. We have a slot available on Thursday 9^th April (11am-12pm, BST) if that suits you. If this is something you would be happy to do,  we could arrange a call to discuss the content, scope, audience etc, to help you plan the session.

 

Please do let me know if you or someone from the HGVS nomenclature committee are able to talk in this slot or if have any further questions.

 

Cheers

 

Ben

 

 

Dr. Benjamin Moore (he/him/his) | GLH Scientist Educator Lead | East Genomic Laboratory Hub

 

East Genomics

Address: Box 143, Level 6, Addenbrooke's Treatment Centre | Cambridge University Hospitals NHS Foundation Trust | Hills Road | Cambridge CB2 0QQ 

Website: https://www.eastgenomics.nhs.uk

 

Cambridge University Hospitals NHS Foundation Trust is part of the National Institute for Health Research – Cambridge Biomedical Research Centre and a member of Cambridge University Health Partners.

 

This email is confidential, see https://www.cuh.nhs.uk/patient-privacy/email-disclaimer/

 

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[Johan den Dunnen]

Dear Ben,

yes, the VEPTC course went very well, it was sold out, thanks. 

Regarding your question, I would be happy to collaborate and give a talk about the HGVS nomenclature standards. Thursday 9^th April (11am-12pm, BST)is OK for me. Let's discuss details using my private mail address (ddunnen @ humgen.nl).

Best regards,

Johan den Dunnen
HUGO HGVS Variant Nomenclature Committee (HVNC

Op dinsdag 25 november 2025 om 17:40:11 UTC+1 schreef MOORE, Benjamin (CAMBRIDGE UNIVERSITY HOSPITALS NHS FOUNDATION TRUST):

[Ben Moore]

Perfect- thank you, Johan!