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Atlas of Variant Effects Alliance

@varianteffect.bsky.social did:plc:lv7piajkb5oytmfjayidfd2r

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

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Resumo

Atlas of Variant Effects Alliance (@varianteffect.bsky.social) é um usuário do Bluesky desde 15 novembro 2024. Tem 687 seguidores, segue 237 contas e publicou 249 posts.

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  • Joe Marsh@jmarshlab.bsky.social

    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@igvfconsortium.bsky.social

    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@jmarshlab.bsky.social

    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@natrevgenet.nature.com

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

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  • Wellcome Sanger Institute@sangerinstitute.bsky.social

    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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