Top Tweets for #VariantEffect
Multiplexed assays of variant effect for clinical variant interpretation. #VariantInterpretation #VariantEffect #Genetics @NatureRevGenet
https://t.co/nxr69dDNDR
Cracking Genetic Codes at Scale!
Multiplexed assays reveal how genetic variants impact health — boosting clinical interpretation and personalized medicine.
#GeneticVariants #ClinicalGenomics #MultiplexedAssays #PrecisionMedicine #VariantEffect #Genomic https://t.co/zHEfe5PMy5
New study tests the functional impact of all possible amino acid changes in CHK2, providing proactive tools for assessing CHK2-dependent cancer risk. #VariantEffect #CancerResearch @genome_gov https://t.co/sYSHvaqx2Z 2/2
AlphaMissense revolutionizes genetic mutation analysis for disease prediction https://t.co/nBSj2DWbkU #AlphaMissense #Genetics #DiseasePrediction #Proteome #Pathogenicity #ScienceJournal #VariantEffect #Bioinformatics #PrecisionMedicine #ClinicalGenomics @ScienceMagazine
🧬 Unlock the Power of MAVEs in Clinical Genetic Interpretation! 🌟 Dive into our latest blog to discover how can MAVEs help with variant classification. https://t.co/ATbwsVh5Ff #Genomics #MAVEs #PrecisionMedicine #varianteffect #ACMG #VUS #genechat
Starting soon! 9am PDT | 6pm CEST with speakers @XiaoyiLi10 @uwgenome and @Flowuenne @uniklinik_hd #PrimeEditing #Epigenetic #CRISPR #CoronaryDisease #VariantEffect #FunctionalGenomics @varianteffects ℹ️https://t.co/KVO9aHRK2G
We 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: https://t.co/b5Wf0YjHDv
#varianteffect #GeneChat #VUS #clinicalgenetics
MAVEvidenceTM 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 #clinicalgenetics
Feature request for @NebulaGenomics: please consider integrating #VariantEffect predictions into the genome browser, thank you!
Our 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.
https://t.co/fJ2nTAvPsV
🧵
Our 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.
https://t.co/fJ2nTAvPsV
🧵
That’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.
Excited for our study to be out today, and thanks to reviewers for helping improve it! https://t.co/zmRkdpPeEZ
Bhatnagar, Surbhi; A Bicluster-based Rule Mining Framework for the... #RuleMining #VariantEffect https://t.co/GCAoR1m8VS
Sad you missed one of our seminars? No worries!
Catch up on our 📺YouTube Channel ▶️https://t.co/mC4uK0E0AG
#varianteffect #genomics #scicomm @varianteffects
🔥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 https://t.co/KwPxMipSxR
New Preprint! from @FPRoth lab group "Assessing computational variant effect predictors via a prospective human cohort" https://t.co/EEgOtVLWvR #varianteffect
The 3D spatial constraint on 6.1 million amino acid sites in the human proteome. #3Dproteins #VariantEffect https://t.co/McSRdQBgDI
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! https://t.co/GVEtH38BVo
#varianteffect
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