Atlas of Variant Effects Alliance
@varianteffects
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Advancing the promise of the Human Genome Project by interpreting the landscape of human genetic variation. https://t.co/KdCe1HcMjP
Joined October 2021
Mapping variant effects for a healthier future! Explore the Atlas of Variant Effects Alliance's 2024 #AnnualReport. From membership growth to global collaborations, discover how we're advancing genomics and making a difference #VariantEffectMapping
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Today!
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🎧 New Podcast Episode! "Biocuration: From Evidence to Classification" Interviews w/ Heidi Rehm & Courtney Thaxton #ClinGen #Genomics #Biocuration #SciencePodcast #PrecisionMedicine.Listen ▶️:
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⏰Application deadline is August 18th, 2025 🧵4/4.
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-Introduction to MAVEs and applications.-Data generation /methods of experimentation .-Open Source tools, databases, and resources.-Quality control and analysis of MAVE data.-Evaluation/assessment/suitability of MAVE outputs.-Translation/interpretation of MAVE data 🧵3/4.
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This new course will be delivered as a combination of seminars and discussions, interactive tutorials, and hands-on laboratory demonstrations and computer practical sessions which cover. 🧵2/4.
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In collaboration with Wellcome Connecting Science, we have a MAVE course coming up in November!.Multiplex assays of variant effects (MAVEs): Approaches, Analysis, and Interpretation.🗓️When: November 23rd–28th, 2025.🌏Where: Hinxton, UK.🧵1/4
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Do you know that we have a podcast series focused on the basic and translational science necessary to map the effect of variants in disease and rare disease? Visit our website, grab a coffee and headphones ☕️🎧
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Thank you again to our sponsors for your generous support of the 2025 Mutational Scanning Symposium #VariantEffect25. Your contributions played a pivotal role in making this event a resounding success!
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We want to thank both Jonathan Frazer ( and Isabelle Zane ( for providing live symposium coverage on BlueSky! 🦋 #VariantEffect25
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Thank you to all who joined us in person or online for #VariantEffect25 💫.📺 Symposium talks are now available on our Youtube channel
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Countdown officially started! #VariantEffect25.follow along at varianteffect[dot]bsky[dot]social
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RT @EdinUni_IGC: Read more here about the work by @jmarshlab and @varianteffects to improve transparency and trust in genetic prediction to….
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RT @jmarshlab: New paper out in Genome Biology! 🎉.We lay out best-practice guidelines for releasing variant effect predictors, developed th….
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Happy #DNADay2025🧬Take a deep dive into the intersection of rare disease genetics and high-throughput functional genomics. Check out our #podcast episode “Variant Effect What?" w/ Stan Fields, Doug Fowler and Greg Costain
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Mutational Scanning helps guide precision medicine! But how does it work? 🤔 Check out this Introduction to Deep Mutational Scanning (Animation)
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We are building an atlas of genetic variants to understand health and disease! Learn more on our website: 🧬#DNADay #DNADay25 #NationalDNADay #DNADay2025🧬
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“The science in the field of genetic variants is moving really fast and the Mutational Scanning Symposium offers great opportunities to stay connected with other institutions and colleagues at its forefront.” @BioMarin @BrotmanBaty #VariantEffect25
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