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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

👤 Joined on 15 November 2024

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📜 Kullanıcı Geçmişi

  • 15 Kas 2024, 14:25
    🎉 Bluesky'e katıldı - İlk kullanıcı adı: @varianteffect.bsky.social

❤️ Beğendiği Gönderiler

Joe Marsh
08 October 2026 12:45

Our AVE Variant Effect Predictors resource now covers non-coding predictors too! Big thanks to Ben Livesey for building the original and Tesni Walsh for taking on the much messier non-coding landscape. Missing a method? Send it our way 👇 www.varianteffect.org/veps/ @uoe-igc.bsky.social

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Impact of Genomic Variation on Function
06 October 2026 07:30

IGVF researchers developed a scalable approach to interpret uncertain genetic variants. Using experimental and predictive evidence, the team reclassified 75% of 16,115 VUS and preclassified 62% of >90,000 unobserved variants. www.biorxiv.org/content/10.6...

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Joe Marsh
05 October 2026 11:01

New preprint from the lab! We used deep mutational scanning to measure the effects of nearly all amino acid substitutions in XPD/ERCC2. Our assay is strongly mechanism-selective, showing better discrimination between different disease phenotypes (TTD vs XP) than any computational predictors.

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Nature Reviews Genetics
14 September 2026 14:32

New online! The shared evolutionary capacities of plasmids and extrachromosomal DNA

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Wellcome Sanger Institute
14 September 2026 14:32

New research suggests that the risk of developing bacterial pneumonia, sepsis, and meningitis after air pollution exposure could depend on the subtype of bacteria a person has. Read the full story ⤵️

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