🔥Hot off the press! "Integrating thousands of PTEN variant activity and abundance measurements
reveals variant subgroups and new dominant negatives in cancers" #Multiplexassay #deepmutationalscanning #varianteffect @kmatreyek @dougfowler42
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Javier Santoyo@jsantoyoMultiplexed assays of variant effect for clinical variant interpretation. #VariantInterpretation #VariantEffect #Genetics @NatureRevGenet
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Nadav Brandes@BrandesNadavProtein language models can predict the clinical consequences of mutations, and they apply for any possible coding mutation. Even though they aren’t trained to do that. We show that in our latest Nature Genetics paper: 🧵👇85019526.8K- Nadav Brandes@BrandesNadav@BrandesNadavWe used a model called ESM1b trained by @MetaAI, and compared the scores it assigns to pathogenic vs. benign mutations. As expected, pathogenic mutations get much lower scores. Crucially, the model has never seen any mutations during training, only wild-type sequences.
104356 - Nadav Brandes@BrandesNadav@BrandesNadavESM1b outperforms other #VariantEffect prediction methods as a classifier of variant pathogenicity.
103341 - Nadav Brandes@BrandesNadavOur new preprint is out! We refined & evaluated the most accurate #VariantEffect predictor to date & made its predictions available for all 450M possible missense mutation effects in the human genome. 🧵327141
Constantiam Biosciences@ConstantiamBioWe are honored to have presented at the most recent @cancervariants VICC-VTMB meeting on MAVEvidenceTM: A functional evidence platform for clinical variant interpretation. Watch the presentation here: #varianteffect #GeneChat #VUS #clinicalgenetics035129- Today is #DNADay21. Did you know the Atlas of Variant Effects Alliance aims to advance the promise of the Human Genome Project by creating comprehensive variant effect maps for important regions of human & human pathogen genomes? Learn more! #varianteffect
024 - We now have over 100 subscribers on our CMAP YouTube channel. 📺Thank you for tuning in! #scicomm #varianteffect #tutorials012
- Nadav Brandes@BrandesNadavThat’s really one of the most impressive #singlecell works I’ve seen lately, using PerturbSeq to measure #VariantEffect. I was even more impressed after downloading and analyzing their data, finding that it actually replicated.Oana Ursu (@[email protected]) @oana__ursuExcited for our study to be out today, and thanks to reviewers for helping improve it!102
Oana Ursu (@[email protected])@oana__ursu@oana__ursuExcited for our study to be out today, and thanks to reviewers for helping improve it!83393- Sad you missed one of our seminars? No worries! Catch up on our 📺YouTube Channel ▶️ #varianteffect #genomics #scicomm @varianteffects
018 - Constantiam Biosciences@ConstantiamBioMAVEvidenceTM aims to address a key challenge in genetic variant interpretation: spending too much time on searching & evaluating heterogeneous functional studies. A limited-time offer for evaluation license is now available. #GeneChat #varianteffect #VUS #clinicalgenetics1352.2K
Feature request for @NebulaGenomics: please consider integrating #VariantEffect predictions into the genome browser, thank you!Nadav Brandes @BrandesNadavOur new preprint is out! We refined & evaluated the most accurate #VariantEffect predictor to date & made its predictions available for all 450M possible missense mutation effects in the human genome. 🧵002- New Preprint! from @FPRoth lab group "Assessing computational variant effect predictors via a prospective human cohort" #varianteffect001
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