Jeremy Arbesfeld presenting pivotal work @ccg2024 about a framework for mapping MAVE data, which has allowed DECIPHER and other resources to display MaveDB data
ClinGen Atlas of Variant Effects Alliance Alan Rubin

Babies shouldn't be dying from a vaccine-preventable disease in modern Britain. bbc.co.uk/news/health-68…

A baby girl born deaf can hear unaided for the first time, after receiving ground-breaking gene therapy when she was eleven months old at Addenbrooke’s Hospital in Cambridge.

Read more here - orlo.uk/5wSVq

NIHR Cambridge CRF NIHR Cambridge Biomedical Research Centre

Lily-of-the-valley is the birth flower of May. A legend tells of a nightingale’s enduring love for this flower, each year returning in May to sing to his belovéd, & ceasing when her flowers fade. For this reason the lily-of-the-valley symbolises the ‘return of happiness’. #MayDay

Perspective: Welcoming the Era of Gene Editing in Medicine nej.md/4d9XbGt #Hematology

Nice end to the week - another paper out! Lovely work from Robin Beaumont looking at clustering of predicted loss-of-function variants in UK Biobank; explains incomplete penetrance in some dev disorder genes. genomemedicine.biomedcentral.com/articles/10.11…

NEW TODAY in nature - A vast DNA tree of life brings open access DNA sequences of >9500 flowering plants! 🧬

This invaluable resource crafted by 279 scientists lets us answer key questions about modern plant life and look back in time to its origins 🌿

nature.com/articles/s4158…

.The DECIPHER Project v11.25 is here.

This update introduces new features including the display of functional data from multiplexed assays of variant effects (MAVEs) to assist variant interpretation and much more.

ebi.ac.uk/about/news/upd…

Honoured to be giving this lecture on penetrance Centre for Personalised Medicine, Oxford later this month (though a teensy bit intimidated by the amazing previous lecturers!). Looking forward to interesting discussions while I'm visiting.

📰 Read ‘Detection and characterization of copy-number variants from exome sequencing in the DDD study’ with Wellcome Sanger Institute Matt Hurles Petr Danecek Cambridge University Helen Firth Exeter Med School ExeterGenomes Caroline Wright Eugene Gardner in Genetics in Medicine⤵️

gimopen.org/article/S2949-…

My 2 hour flight delay this am allowed me read this properly. Such a thoughtful reflection on why screening using genomic technology is complex. Bottom line Bígí cúramach. Population screening requires robust evidence-genomics is no exception. pubmed.ncbi.nlm.nih.gov/38070525/

Despite our tech advancements, it’s remarkable to realise many rural parts of the world remain unmapped. Here’s a great read on how the Humanitarian OpenStreetMap Team team is addressing this: virg.in/3TGLP56

Virgin Unite Holly Branson

Absolutely devastating loss of brave humanitarians, who should never be targeted.

Applications are now open to join our new UKRI AI Centre for Doctoral Training in Biomedical Innovation for September 2024 entry. All the information you need to apply is ➡️ ai4biomed.io UK Research and Innovation UKRI CDT in AI for Biomedical Innovation

Updated preprint is now up. A bit more data and some new authors!

Thread below if you haven't seen this work yet 👊
Kathryn McGurk James Ware
medrxiv.org/content/10.110…

The value of mapping in the Amazon!

Check out the great interview that Holly Branson shared on her blog for Virgin Unite, featuring some really cool people from HOT (@canunen
and Rebecca) 😎 buff.ly/4aqeEbk

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!

The gene name has now been added to the protein browser to assist in easily identifying which protein is being viewed.

Functional data from Multiplexed Assays of Variant Effect (MAVEs) from the MaveDB repository are now displayed on functional tabs. Links to experimental design and score sets in MaveDB are provided, in addition to publication(s) links Atlas of Variant Effects Alliance Alan Rubin