Atlas of Variant Effects Alliance

📌 Mark your calendars for the 8th Annual Mutational Scanning Symposium "Mapping and Modelling Variant Effects at Scale" 🗓️ May 21-23, 2025 in Barcelona and online 📝 Registration opens on Jan 20th, 2025 ℹ️ https://lnkd.in/gAvatF7v Centre for Genomic Regulation (CRG) Institute for Bioengineering of Catalonia (IBEC) #VariantEffect25

We are #Hiring! The Brotman Baty Institute (BBI) at the University of Washington is at the forefront of technology development for understanding human genetic variation. The BBI along with the Department of Genome Sciences has an opportunity for a full-time Program Operations Specialist to support our Variant Effects Program. This would include providing high-level professional operational coordination, key administrative management and communications support for the Atlas of Variant Effects Alliance  Full-Time • Hybrid • Seattle, WA

The Broad Institute of MIT and Harvard Genomics 2 Proteins portal 2024 final update has just been released (https://lnkd.in/gAFErcdt)! Many exciting developments over 2023, but to list a few: ✅ Tremendous growth in genetic variant data: gnomAD 4.1 (>46.5M / vs. 18M in gnomAD 2.1), ClinVar (2.3M), HGMD (406K). Numbers are for protein-coding variants. ✅ Proteome-wide intra- and inter-protein interaction data per residue (and variants) - generated from both PDB and AlphaFold ✅ Small-molecule binding pocket annotations by Fpocket  ✅ Users can now map mutations in non-canonical transcripts/isoforms to canonical isoforms, visualizing population and pathogenic variants in non-canonical proteins with missing protein regions/domains ✅ More function data in MaveDB! Now having data for 456 human genes (vs. 40 in the past release) ✅ Analyzing your data (mutations or structures) in G2Pportal is now easier and better, with dynamic CSV upload and filtering as needed for your research ✅ Find documentation for data generation ➡️ https://lnkd.in/ezcqdBMc ✅ We are organizing multiple workshops in 2025 to provide hands-on training on using the portal; stay tuned! Meanwhile, all tutorials: https://lnkd.in/evCEPSPu Finally, regular data updates and maintenance of a bioinformatic resource are as critical and tricky as its development. A huge shout out to the G2Pportal team: Jordan Safer, Seulki Kwon, Mikias M, Surya Mani, for their effort in this! And we are grateful to our funder Merkin Institute for Transformative Technologies in Healthcare for their continuing support as we look forward to 2025!

Thrilled to be part of the Variant Effects Seminar Series (VESS) organizing committee, part of the Atlas of Variant Effects Alliance. https://lnkd.in/gqKxSzYq Social: @priyanka_bajaj3 (Twitter) @priyankabajaj.bsky.social (Bluesky Social) We organize talks on the first Tuesday of every month. In this series, early-career scientists from around the globe share and discuss their research related to interpreting human genetic variation. https://lnkd.in/gNWatais Social: @varianteffects (Twitter) @varianteffect.bsky.social (Bluesky Social)

What a year! #VariantEffects #Seminar Thanks to all our speakers and to our amazing VESS organizers! ℹ️ 🗣️ https://lnkd.in/gxWe_N-p 📺 🍿 https://lnkd.in/gT3tgXbn VESS Organizers/ Bios: https://lnkd.in/ghzB4KBV

Incredible! Also, Dr Iris Cohn (& colleague Dr Michelle Axford) (The Hospital for Sick Children) were recently interviewed about their work on the Atlas of Variant Effects Alliance sponsored Variants and Us Podcast. You can learn more about this team and pharmacogenetics in Episode 3 “Your genes on drugs: context matter” 🎧https://lnkd.in/gQ-7z48Y (listen on our website) 🎧https://lnkd.in/gwdHusVd (listen directly on Spotify) 🗒️ https://lnkd.in/gZkMCvPs (transcript and show notes) #Podcast #Pharmacogenomics (VUSpod is produced by Alex N. Nguyen Ba and team at University of Toronto Mississauga)

⏰ Please join us TODAY! Dec 3rd at 10 am (Pacific) for a 1-hour webinar on making Multiplex Assays of Variant Effect (MAVE) protocols public & maximizing discoverability of your MAVE SOPs You must register to attend this special protocols.io event: https://lnkd.in/eg6TXpus

VESS Special Edition: End-of-Year Open Mic! 🎙️ 💫 Join us tomorrow (Dec 3, 9-10am PT | 5-6pm GMT+1) with Drs. Benedetta Bolognesi & Jonathan Frazer: Will VUS soon be a thing of the past? Clinical applications + protein design—don’t miss it!   #VariantEffect #Seminar #VUS #ProteinDesign ℹ️ https://lnkd.in/gsTpV2AR

📢 Empower Genomic Innovation with Your Sponsorship! 🧬 We are looking for generous sponsors to support the 8th Annual Mutational Scanning Symposium (MSS 2025), “Mapping and Modelling Variant Effects at Scale” This hybrid event, occurring both online and in-person in Barcelona from May 21-23, 2025, is THE event for the Mutational Scanning Community! Why Sponsor? • Foster and Catalyze Innovation: Your support will enable early career researchers to present their groundbreaking work and engage with leading experts in the field. This helps drive cutting-edge research and accelerates discoveries that can revolutionize the field. • Educational Impact: Help us provide valuable educational resources so that we may continue to democratize the foundational experimental technologies for mapping variant effects.  • Networking Opportunities: Connect with emerging talents and industry leaders, fostering collaborations that can drive future advancements in genetics. • Visibility and Recognition: Gain visibility among a global audience of researchers, academics, and industry professionals, showcasing your commitment to the future of genetic research. Interested in becoming a sponsor? Visit https://lnkd.in/gAvatF7v for details. Let’s make MSS 2025 unforgettable together! #Sponsor #Support #Genetics #Genomics #VariantEffect #AI #MachineLearning #Symposium #VariantEffect25

🎤✨VESS Special Edition: End-of-Year Open Mic! Join us Dec 3, 9-10am PT | 5-6pm GMT+1 with Drs. Benedetta Bolognesi & Jonathan Frazer: Will VUS soon be a thing of the past? Clinical applications + protein design—don’t miss it! 🚀 #VUS #ProteinDesign ℹ️ https://lnkd.in/gsTpV2AR