citizengenetics
@ctzngeneticsEmpowering Patients with the Latest Discoveries about their Genes
LLMs may play an important role in variant classification in the future... #vus
Can LLMs improve the accuracy of genetic variant classification, particularly for variants of uncertain significance (VUS)? @arxiv #Oncodesign "Integrating Large Language Models for Genetic Variant Classification" • Research explores how machine learning can enhance genetic…
Genetic testing often identifies variants of uncertain significance (VUS), but not all VUS are equal. A study of 4 labs investigates subclassifying VUS—some are more likely to reclassify as pathogenic or benign. #Genomics #VUS #PrecisionMedicine @ambrygenetics @BaylorGenetics…
Fantastic news for FLVCR1 patients. @GIMJournal published these breakthrough findings from the team @BaylorGenetics #FLVCR1 #Diagnosis
Dr. @DanielGCalame, @LupskiLab et al show how one gene provided diagnoses for 30 patients whose condition was unexplained for years #FLVCR1 @bcmhouston @bcmgenetics @GREGoR_research, NL Nguyen, @BaylorGenetics @GIMJournal bcm.edu/news/one-gene-…
Now available! Download the most recent ClinVar data release today. This release includes 4.7+ million records. Get an overview of ClinVar submitted records and additional updates: ow.ly/trkk50U2Ezg
VUS in precision oncology - nuance or nuisance? Great article from The Oncologist detailing patient cases academic.oup.com/oncolo/article… #VUS #Oncology
VUS Almost 50% of variants are classified as variants of uncertain significance, therefore it's extremely important to correctly interpret this information. @OncoAlert #ASCO24
Can multiplexed assays of variant effect (MAVE) reduce the number of VUS? Find out at our Free Live Webinar on November 13th at 12 PM ET. Register now! ➡️ spkl.io/6011fRFs7
Exciting findings from this study: after just one year, 40% of patients with an uncertain diagnosis finally received clarity. A significant step forward in patient care! 📊🔍 Check it out: pubmed.ncbi.nlm.nih.gov/39462520/ #VUS
Check out this insightful paper on rare pediatric neurological diseases! It evaluates the utility of four annotation tools for accurate patient diagnosis. Let’s improve diagnostic yield and enhance outcomes for these kids #Pediatrics #Genetics #Neurology nature.com/articles/s4159…
Insightful @Nature_NPJ paper on the role of AI modeling in VUS classification. While progress has been made, current deep learning models still have limited clinical utility for predicting VUS pathogenicity in many hereditary cancer genes. Read more here: nature.com/articles/s4169……
Exciting news! FBN1 variant c.6724C>T (p.[Arg2242Cys]) has been downgraded from pathogenic to benign. Positive progress for Marfan syndrome! 🎉 #Genetics #MarfanSyndrome onlinelibrary.wiley.com/doi/10.1002/aj…
📄 Check out this Canadian clinical practice advisory document—it's a thorough review of the current state of recontact in genetic testing. jmg.bmj.com/content/jmedge… 🇨🇦🔍 #VUS #Recontact @GeneticistsCCMG
🎉 Exciting news! Familial testing has led to the reclassification of a VUS in CCDC22, classifying it as Likely Pathogenic for Ritscher-Schinzel syndrome-2. 🌟🔬 gimopen.org/article/S2949-… #GeneticTesting #RitscherSchinzelSyndrome #VUS
🔍 This paper provides illuminating insights into the ongoing challenges faced even after a VUS is reclassified. A must-read for patients navigating oncology! 📚✨ acsjournals.onlinelibrary.wiley.com/doi/10.1002/cn… #GeneticTesting #VUS #CancerResearch
📢 Exciting news! A new study in @NatureGenet uncovers novel variants linked to type 2 diabetes. nature.com/articles/s4158… 🧬💡 #Type2Diabetes #Genetics #VUS
🚨 New VUS! A new variant of uncertain significance has been identified in MEN1. Check out the details! 📊🔬 academic.oup.com/jes/article/8/… #Genetics #VUS #ResearchUpdate
📢 If you've been diagnosed with a variant of uncertain significance, check out this fantastic resource from @MayoClinic! It offers valuable insights and guidance. 📷mcforms.mayo.edu/mc1100-mc1199/…… #GeneticTesting #HealthResources #VUS
Have you been diagnosed with a Variant of Uncertain Significance? 🤔 Did you know that 1 in 3 VUS are eventually reclassified?! 🤯 Check it out here gimopen.org/article/S2949-… 📊 #VUS #PersonalizedMedicine #Genomics
🌟 Exciting news! We're thrilled to launch Citizen Genetics, dedicated to helping you track and understand genomic discoveries for better healthcare. 🧬✨ Stay tuned for insights, tools, and resources that empower your health journey! #Genomics #HealthTech #PersonalizedMedicine
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