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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Atlas of Variant Effects Alliance (@varianteffect.bsky.social), 15 Kasım 2024 tarihinde katılan bir Bluesky kullanıcısı. 687 takipçisi var, 237 hesabı takip ediyor ve 249 post paylaştı.
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Bluesky ağındaki herkese açık beğeniler.
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
Postu gösterIGVF 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...
Postu gösterNew 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.
Postu gösterNew online! The shared evolutionary capacities of plasmids and extrachromosomal DNA
Postu gösterNew 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 ⤵️
Postu göster
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