The Sanger Excellence Fellowship aims to increase the representation of researchers with Black heritage backgrounds in the UK. Read more about this in a new @ELife article by @EqualityScience, David Adams ,Muzlifah Haniffa , Dr Maria Augusta Arruda BSc PhD FBPhS & Aidan Maartens⤵️ elifesciences.org/articles/94732

The use of the phrase “ancestry-specific variant” is increasing, particularly to describe rare Single-nucleotide variants (SNVs). But these alleles are not ancestry-specific. They have not yet been found elsewhere, but they will be. 1/n

AMRC charities account for half of public investment in UK rare disease research. But they bring so much more than money to the landscape. Our new report showcases how charities are helping to transform the lives of the rare disease community: shorturl.at/dmzN1.

Last year, The DECIPHER Project made the move over to EMBL-EBI after many successful years at Wellcome Sanger Institute and this year DECIPHER celebrates its 20th anniversary 🎉 Find out more about DECIPHER and the move over to EMBL-EBI. ebi.ac.uk/about/news/ann…

Someone’s gut bacteria can show if they would benefit from combination immunotherapy for multiple rare cancers. 🧫 This could help develop probiotics that modulate the #microbiome to support #cancer therapy from the inside. 💊⤵️ sanger.ac.uk/news_item/new-…

European Journal of Human Genetics publishes paper on 2023 Mutational Scanning Symposium workshop examining potential clinical use of MAVE data. BBI's Lea Starita among Atlas of Variant Effects Alliance members @FPRoth Matt Hurles Clare Turnbull- Prof/NHS Dr David Adams Alan Rubin nature.com/articles/s4143…

Today we are 10 Open Targets! Lots to celebrate and lots to look forward to working in partnership between industry and academia.

Really excited to be part of the development of @PopResUK with great friends and colleagues. It will help to bring forward the best of #populationbasedscience for all. 🚨Posts coming soon re. jobs available in the team - for now - please check University of Bristol Jobs - search "PRUK"🚨

Very cool - kudos to the Decipher team. Now clinicians and clinical scientists can see diagnostically useful functional data on individual variants in the same clinical interpretation platform they were using already. A key step in the MAVE revolution!

It was an absolute treat to spend some time with so many future leaders in global genomics. Easy to be optimistic about the future in such company.

Check out our paper: Minimum information and guidelines for reporting a multiplexed assay of variant effect. Great team effort through the AVE alliance Atlas of Variant Effects Alliance Melina Claussnitzer, Ph.D. Victoria Parikh, MD Alex Wagner Benedetta Bolognesi Alan Rubin genomebiology.biomedcentral.com/articles/10.11…

Well done to Andrew Waters from the lab for delivering our study on saturation editing of BAP1. nature.com/articles/s4158…

Thank you to the many clinicians, scientists, patients and families involved in the DDD study, Wellcome Sanger Institute Helen Firth Matt Hurles. A genetic diagnosis in rare diseases makes a huge difference to clinical management and patient outcomes, see: doi.org/10.1016/j.gimo…

We at Wellcome have joined many UK science organisations in signing a letter to the chancellor ahead of the budget at the end of the month. It is crucial that the UK has stable, predictable investment in R&D, not wasteful stop-start funding. ft.com/content/fc00e5… via @ft

Professor Nick Thomson has been appointed Head of the Parasites and Microbes Programme. 🦠🧫🧬 Head to our website to learn more about his research vision for the future 🔗sanger.ac.uk/news_item/prof…

📰UK innovation will be undermined by science department Budget squeeze, industry leaders warn ✍️ Financial Times (£) ft.com/content/fc00e5…

Today we report in Nature Genetics the genetic landscape of cancer drug resistance mechanisms from CRISPR base editing screens nature.com/articles/s4158…

Delighted to share our work in Nature Genetics using base editing to map genetic mechanisms of drug resistance. If you're interested in drug discovery then check it out. Access here rdcu.be/dXmlo [rdcu.be]. Congratulations to the team and Matt Coelho

Good to see ukbiobank issuing a robust statement addressing these concerns openly. A bit concerning to learn that the Guardian may not have shared all the information that could have helped with ukbiobank’s investigation.

Really excited by this preprint going live on positive selection in the male germline. Lots of cool insights, including unexpectedly high prevalence for tens of rare diseases