November's Variant Effects Seminar will be held on Tuesday, 3 November (4–5 pm UTC). Hear from @pankhurigupta.bsky.social and Abbye McEwen, MD/PhD as they discuss making MAVEs clinically actionable. More info and joining instructions: www.varianteffect.org/seminar-seri...
Atlas of Variant Effects Alliance
Atlas of Variant Effects Alliance
@varianteffect.bsky.social
Advancing the promise of the Human Genome Project by interpreting the landscape of human genetic variation. https://www.varianteffect.org https://www.linkedin.com/company/atlas-of-variant-effects-alliance #AtlasOfVariantEffects
687 followers237 following249 posts
The AVE Alliance recently appointed Prof. Joe Marsh @jmarshlab.bsky.social to its Executive Committee. This is in addition to his role as co-chair of the Analysis, Modelling and Prediction workstream. Learn more about AVE's Executive Committee and leadership: www.varianteffect.org/leadership/
Seulki Kwon's October Variant Effects Seminar presentation covered the protein feature enrichment score (PFES): a proteome-wide scoring framework leveraging protein features to mechanistically interpret missense variants and their impact on protein function. Watch now: tinyurl.com/mryz6n7k
Watch @marianomartin.bsky.social give his Variant Effects Seminar presentation, 'Systematic mutational mapping reveals optimal amyloid formation for RIPK function'. Both October talks are now available on our YouTube channel: youtu.be/pXhjnF9Z0tU
Our Variant Effect Predictors (VEPs) resource now includes non-coding variants! You can also find updated guidance on using and submitting VEPs. Developed by the Marsh lab (@edinburgh-uni.bsky.social), we caught up with @jmarshlab.bsky.social to learn more: tinyurl.com/2rkxextw
Our next Variant Effects Seminar is tomorrow – October 6, when @marianomartin.bsky.social and Seulki Kwon will present their research. Discover this month's speakers and get joining instructions: www.varianteffect.org/seminar-seri... #DeepMutationalScanning #AtlasOfVariantEffects
Learn more about our next two Variant Effects Seminar speakers and their research. Mariano Martín Gomez and Seulki Kwon will present on October 6 (16.00-1700, UTC). Learn more about the seminar series and how to join their talks at www.varianteffect.org/seminar-seri...
Are you an AVE member? Membership is open to anyone invested in creating comprehensive variant effect maps. Joining gives you access to: ☑️ Newsletters ☑️ Community Slack channels ☑️ Literature, resources & technical expertise ☑️ Collaboration & career opportunities Join today: tinyurl.com/3smfcaks
Join us on October 6 for another edition of our early career seminar series. The seminar will feature @marianomartin.bsky.social (Institute for Bioengineering of Catalonia) and Seulki Kwon (Broad Institute). More information and joining instructions: www.varianteffect.org/seminar-seri...
We're delighted that Nobel Laureate David Baker, Director of the Institute for Protein Design at the University of Washington, will deliver a keynote address at the Mutational Scanning Symposium, next June. Event registration opens soon. Learn more: tinyurl.com/3x8d5rev Image: Christopher P. Michel
Our YouTube channel is a great resource that incudes: ✅ Deep mutational scanning principles ✅ Functional evidence workshops ✅ Mutational Scanning Symposia ✅ Early career seminars ✅ Virology Interest Group talks and more. Search by presenter, topic or series: tinyurl.com/2e4rbcm3
Get the latest research from our Virology Interest Group on our YouTube channel: youtu.be/XNu2ejij_vo?... This month's talk was given by Caroline Langley (Bonilla Lab, Rockefeller University) on how strain-specific epistasis shapes fitness landscapes of APOBEC3G antagonism by HIV-1 Vif proteins.
If you missed last week's Variant Effects Seminar, you can now find the presentations on the VESS playlist on our YouTube channel. Catch up with the excellent talks from Sergio Garcia Busto and Kortni Kindree whenever it works for you. See the VESS playlist: youtu.be/24n8i78STPQ?...
If you're interpreting functional assays for clinical use, check out this resource from members of our ClinGen/AVE Functional Data Working Group. Get more information and download the presentation: www.varianteffect.org/clinical-app... Read the preprint: www.medrxiv.org/content/10.6...
Join us next week for the Variant Effects Seminar! Our September speakers are Sergio Garcia Busto (@sangerinstitute.bsky.social, @cam.ac.uk) and Kortni Kindree (University of Toronto) Learn more about our speakers, their work and how to join the seminar: www.varianteffect.org/seminar-seri...
Have you listened to the Variants and Us (VUS) podcast yet? Now into its second season, the podcast focuses on the basic and translational science necessary to map the effect of variants in disease and rare disease. Listen to all episodes here: www.varianteffect.org/podcast/
Our next Variant Effects Seminar is on September 1. Join Sergio Garcia Busto (@sangerinstitute.bsky.social, @cam.ac.uk) and Kortni Kindree (University of Toronto) and explore their research. Learn more about our speakers' work and how to join the seminar: www.varianteffect.org/seminar-seri...
Missed the August Variant Effects Seminar? The good news is that its now available on our YouTube channel. So, you can watch @sarahgurev.bsky.social's presentation on prediction of viral mutation effects whenever it works for you. Watch now: tinyurl.com/4amhv94k #AtlasOfVariantEffects
You can now watch the latest research presentation from AVE's Virology Interest Group: tinyurl.com/5n7t932k This month's talk was given by @williambakhache.bsky.social on the subject of genotype-by-inhibitor interactions to dissect enterovirus replication. #AtlasOfVariantEffects
@eag91.bsky.social was recently the 100th speaker of our Variant Effects Seminar Series. The work he presented has just been published as a preprint. Learn more: tinyurl.com/mrxf5zxv @solersanchisx.bsky.social, @cwjpugh.bsky.social, @federicobilleci.bsky.social, @jonnyfrazer.bsky.social
Atlas of Variant Effects Alliance reposted
🧪 One small step towards a complete atlas of human sequence variant effects, a giant leap for figuring out which variants in the Autoimmune Regulator (AIRE) protein are pathogenic, and some baby steps towards understanding the AIRE protein @varianteffect.bsky.social
🧬Online now! 📄Systematic and proactive evaluation of AIRE missense variant effects 🧑🤝🧑 @axakova.bsky.social @fritzroth.bsky.social & co www.cell.com/ajhg/fulltex...
Don't forget, we'll be live later for our Variant Effects Seminar. Today's talk is with @sarahgurev.bsky.social. Find your time zone and join us at 4.00 pm (UTC): www.varianteffect.org/seminar-seri...
Our Variant Effects Seminar Series returns next Tuesday, August 4! Join @sarahgurev.bsky.social for her presentation, 'Towards reliable viral mutation effect prediction for pandemic preparedness'. Discover Sarah's work and get the event joining info: www.varianteffect.org/seminar-seri...
Some of our Virology Interest Group have authored a review of the recent technological & conceptual advances in the deep mutational scanning methods being applied to virology. Also covered are the insights these advances are yielding & suggestions for future studies. Read now: tinyurl.com/84dcy96z
As our Variant Effect Seminar Series (VESS) returns, we caught up with two of our earliest speakers, Mafalda Dias & Jonathan Frazer. Now group leaders at the Centre for Genomic Regulation (CRG) in Barcelona, we explore the role of VESS in their journey. Read their interview: tinyurl.com/m4ncw2nf
Mark your calendars for the next instalment of our Variant Effects Seminar Series. 🗓️ On August 4, Sarah Gurev will be our sole speaker, with her extended presentation, 'Toward reliable viral mutation effect prediction for pandemic preparedness'. More info: tinyurl.com/4ms3mmzy
You can still register for, 'Unmasking the Genome: Integrating WGS, AI and Functional Genomics', from 1-4 September at the University of Exeter, UK. The workshop is for all researchers working at the leading edge of genomic science. 🧬 Get the programme and register now: tinyurl.com/4vbrp63p
The new publication by members of the Atlas of Variant Effects Clinical Variant Interpretation working group provides guidance for combining data from multiple MAVEs to strengthen the functional evidence for clinical variant classification. Read now: tinyurl.com/yn6bkhhn
The latest episode of the Variants and Us (VUS) podcast explores how MAVEs are made with two scientists (@kmatreyek.bsky.social and @gregfindlay.bsky.social) that have transformed the generation of phenotypic data for thousands of variants simultaneously. Listen now: tinyurl.com/3kv774ee
Our Variant Effects Seminar Series (VESS) is taking a break this month, but will be back on August 4 with an extended presentation from @sarahgurev.bsky.social, 'Towards reliable viral mutation effect prediction for pandemic preparedness'. Discover VESS and all speakers: tinyurl.com/4atzepeb
Our Variant Effects Seminar Series (VESS) is organized and led by a committee of early career scientists. We asked Priyanka Bajaj and @ohannab.bsky.social about their experiences on the VESS committee, as they depart for new adventures in variant science. Read now: tinyurl.com/lifeaftervess
Missed Abbye McEwan's excellent introduction to MAVE technology? It's now available on YouTube: www.youtube.com/watch?v=FeUp... Learn more about how to use MAVE data to inform clinical variant classification, and discover how these datasets may help resolve variants of uncertain significance.
Did you know you can find all the Variant Effects Seminars on the AVE YouTube channel? Established in 2021, the seminar series reached its 100 speaker milestone last month. So, there are plenty of great talks to choose from. Find your next watch: tinyurl.com/AVE-VESS #AtlasOfVariantEffects
Why should you attend MSS 2027? We asked PhD student Rebeca Olvera-León about her experiences at the last four MSS events, and found out what she was most looking forward to for MSS 2027: bit.ly/4eHgiJz Tell us, what do you hope is on the program for MSS 2027?
We are delighted that Jay Shendure will be a keynote speaker at MSS 2027. He says, "It's phenomenal to see the community that AVE has grown in to, and the impact that it's having. I'm excited to have the opportunity to share some perspective and our latest work." www.varianteffect.org/mss2027/
It's exactly 1 year until the 10th anniversary MSS 2027 in Seattle! MSS unites the functional genomics community, fostering field-defining discussions and collaborations. Co-organizer, Doug Fowler, PhD, discusses the event: bit.ly/4wbDzKV #VariantEffect27 #AtlasOfVariantEffects
Don't miss Abbye McEwen's deep dive into interpretation of variants of unknown significance (VUS) - happening today (12.00 pm ET / 9.00 am PT / 5.00 pm BST). Join here: bit.ly/3Seq0LL #DeepMutationalScanning #VariantScientistNetwork #AtlasOfVariantEffects
This Wednesday, are you ready to go beyond the VUS and learn more about using multiplexed assays of variant effects (MAVEs) to inform clinical variant classification? It's free to sign up: bit.ly/3Seq0LL #DeepMutationalScanning #VariantScientistNetwork #VUS #MAVE #AtlasOfVariantEffects
At last week's Variant Effects Seminar (VESS), @eag91.bsky.social discussed disentangling the biophysical effect of missense variants using protein dark energy. If you missed it, you can now watch it on our YouTube channel at a time to suit you. ⏯️ youtu.be/je5XosFTLPY
Last week our Variant Effects Seminar Series (VESS), reached its 100th speaker. Are you in our gallery? Let us know! VESS is led by and exists for early career scientists, enabling them share their work on interpreting human genetic variation. Learn more: www.varianteffect.org/seminar-seri...
MAVEs are transforming how labs evaluate genetic variants, providing functional evidence at scale. Join Dr Abbye McEwen for an introduction to MAVEs and to learn how these datasets may help resolve variants of uncertain significance. Register free: bit.ly/3Seq0LL #AtlasOfVariantEffects
@tylernstarr.bsky.social of the University of Utah recently presented for the AVE Virology Interest Group on his latest research into SARS-CoV-2 variants using deep mutational scanning. Watch now and subscribe: youtu.be/hQ6ArFcOwPA #AtlasOfVariantEffectsAlliance
Happening today – don't miss out! Join here: www.varianteffect.org/seminar-seri... at ⏰ 9.00 (Pacific) ⏰ 12.00 (Eastern) ⏰ 17.00 (BST) ⏰ 18.00 (CEST)
Join us tomorrow for a special VESS seminar, as we mark our 100th speaker milestone with a talk from postdoctoral researcher, Ezequiel Galpern. We also have some special guests, as we look to the next 100 speakers! Joining info: www.varianteffect.org/seminar-seri... #AtlasOfVariantEffects
Join us tomorrow for a special VESS seminar, as we mark our 100th speaker milestone with a talk from postdoctoral researcher, Ezequiel Galpern. We also have some special guests, as we look to the next 100 speakers! Joining info: www.varianteffect.org/seminar-seri... #AtlasOfVariantEffects
Join us, next Tuesday as we mark 100 speakers in VESS! After Ezequiel Galpern's presentation we will celebrate our first 100 speakers and a look to the future of this fantastic early-career seminar series. See you there ➡️ www.varianteffect.org/seminar-seri... #AtlasOfVariantEffects
Our Variant Effect Seminar Series is marking a milestone! Join us on Tuesday, June 2, for our 100th speaker, Ezequiel Galpern. Plus, special VESS guests, as we celebrate and look forward to the next 100 speakers! Join here: www.varianteffect.org/seminar-seri... #AtlasOfVariantEffects
Both talks from the May episode of the Variant Effects Seminar Series (VESS) are now available to watch on our YouTube channel ⏯️ bit.ly/4ud02Xa. Catch up with Thea Klarsø Schulze and Jerome Freudenberg's presentations anytime! #Genomics #VariantInterpretation #AtlasOfVariantEffects
Catch up on all 3 days' talks from the Mutational Scanning Symposium (MSS) 2026 on our YouTube channel ⏯️ bit.ly/4diP7FD Whether you're watching for the first time or revisiting a favorite talk, there's something insightful to enjoy! #VariantEffect26 #AtlasOfVariantEffects
You can now find the Day 2 presentations from the MSS 2026 over on our YouTube channel. ⏯️ bit.ly/4tzo9hQ The final day's talks will be live soon, so watch this space! #VariantEffect26 #Genomics #DeepMutationalScanning #FunctionalGenomics #AtlasOfVariantEffects