enGenome’s Post

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🚀 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

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Mauro DiNuzzo

TechBio Founder & CEO @ Netabolics | Building Next Generation Systems Biology

1mo

Congrats! A wonderful example of company-driven innovation, plus it is from Italy ❤️

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