enGenome

🎉 We got featured at Amazon Web Services (AWS) with one of our success cases! At Di Venere Hospital in Bari, Italy, an adult male patient with suspected retinitis pigmentosa had undergone several genetic tests without arriving at a clear diagnosis 🔍 The case was revisited when the patient's wife became pregnant. Doctors at the hospital reopened the case, re-sequencing the patient's exome and this time, thanks to eVai’s capability to accurately classify and prioritize variants, a synonymous splicing variant associated with a small deletion within the same gene was identified, allowing for the diagnostic confirmation of retinitis pigmentosa. 🎯 This case highlighted eVai's effectiveness in identifying previously unknown genetic variants, confirming the diagnosis, and providing vital information to the expecting couple. https://lnkd.in/dufCFqPh

Here's how VarChat can transform your human genomic variant search: 📚 Powerful literature retrieval: VarChat scans the literature to retrieve matching publications, so you get the most comprehensive and up-to-date information available. 📝 Informative summarization: get detailed summaries for each variant or gene, speeding up your search process. 🧬 Variety of input: easily search using gene symbols, genomic coordinates or transcripts. VarChat ensures you can input data precisely how you need it. VarChat is design so you can have the most relevant and precise information at your fingertips. Access now: https://lnkd.in/dGrJaNi8 #Genomics #enGenome #GeneticResearch #AI #HealthcareInnovation #VarChat #Bioinformatics #ClinicalResearch #GenAI

🧬 The field of genetics holds immense promise for personalized medicine and ethical considerations are always on the radar. Our latest article explores the issue of genetic discrimination, exploring its impact on individuals and the legal frameworks in place. Head over to our website to read the full article ✒ https://lnkd.in/dtwnKEYk Written by Floriana Basile #genomics #geneticdiscrimination #engenome

And #ESHG2024 has come to an end! 🙌 A huge thanks to everyone who visited our booth, watched our corporate satellite and stopped by our posters to learn more about eVai, VarChat and our latest works. Your enthusiasm and engagement made this conference a standout event for us. It's been great and we're looking forward to many more insightful discussions and collaborations. See you next year in Milan! 🎉 #ESHG2024 #enGenome #eVai #VarChat #genomics

🚀 We’re thrilled to present our latest work at #ESHG2024! As a company, we are innovation-driven and always seeking to push the boundaries of what's possible. Come visit our 5 posters: 🔹 In-depth variant interpretation: AI-powered tools for advancing genomic understanding (P16.021.D) 🔹 Extracting phenotypes from clinical descriptions using large language models: a comparison between automated and manual approach (P16.020.C) - Selected as a candidate for the Early Career Poster Award! 🎉 🔹 A novel VEP plugin to annotate Short Tandem Repeats with HGVS nomenclature (P16.022.A) 🔹 Evaluation of structural variants calling performances using short and long reads sequencing (P.16.019.B) 🔹 Validation of Twist CNV backbone panels at different probe densities for large pathological CNV detection (P16.061.A) - A collaboration with Twist Bioscience presented at our corporate satellite by Chung-Ting (Tina) Han #enGenome #eVai #VarChat #genomics #bioinformatics

👊 And we were off to a great start at #ESHG2024! A big thanks to everyone who attended our corporate satellite this morning, featuring our special guest Chung-Ting (Tina) Han from Twist Bioscience, and congrats to our iPhone giveaway winner! 🎉 Our booth has been packed with enthusiastic attendees, and our bags were seen all around the conference! If you missed our presentation, stop by stand #542 to chat with our experts and see eVai and VarChat in action. See you tomorrow! #ESHG2024 #engenome #VarChat #eVai #genomics

🎉📲 Our ESHG Corporate Satellite session is just around the corner and you cannot miss it! Be there for insights on our groundbreaking AI-powered solutions and the chance to win an iPhone for those attending in presence! Save your seat now: https://lnkd.in/deZdPmpg #ESHG24 #enGenome #genomics #AIinhealthcare

🎁 iPhone giveaway and Twist Bioscience's guest talk at our ESHG Corporate Satellite! Join our session Saturday, June 1st at 10am, to get an in-depth demonstration of our AI-powered solutions: 🔹 eVai - our award-winning variant interpreter 🔹 VarChat - the first GenAI genomic variant assistant In addition, our special guest Chung-Ting (Tina) Han, Director of Applications & Business Development at Twist Bioscience, will discuss CNV performances on Twist panels. 📲 And we have one more surprise: those attending in person will participate in our iPhone giveaway! Save your seat: https://lnkd.in/deZdPmpg Don't forget to stop by booth #542 and chat with our experts! #ESHG24 #enGenome #genomics #AIinhealthcare

📣 Calling all ISV 2024 attendees in Porto, Portugal! Make sure to catch our CTO Ivan Limongelli as he takes the stage for a panel discussion on "Enhancing genomic variant interpretation with machine learning models" tomorrow at 1:50pm! It's an opportunity not to be missed, so mark your calendars and join the conversation! 📚For more information on the program: https://lnkd.in/epqdKPqZ #ISV2024 #AIingenomics #enGenome

Meet us in Portugal for the 15th International Symposium on Variants in the Genome (ISV) Conference and discover the power of artificial intelligence in genomics! Experience firsthand how our cutting-edge technology is shaping the field of genomics today: 👉 Live demonstrations of eVai: Our AI-driven and award-winning variant interpreter for monogenic and digenic interpretation. 👉 Get to know VarChat: The industry's first GenAI platform to retrieve scientific literature and summarize information on human genomic variants. See you there! #ISV2024 #genomics #engenome