Atlas of Variant Effects Alliance’s Post

𝗕𝗜𝗢𝗖𝗔𝗣𝗧𝗜𝗩𝗔 𝗦𝗽𝗼𝗻𝘀𝗼𝗿𝘀 𝘁𝗵𝗲 𝗢𝗻𝗲 𝗛𝗲𝗮𝗹𝘁𝗵 𝗚𝗲𝗻𝗼𝗺𝗶𝗰𝘀 𝗘𝗱𝗶𝗻𝗯𝘂𝗿𝗴𝗵 𝗖𝗼𝗺𝗺𝘂𝗻𝗶𝘁𝘆 𝗠𝗲𝗲𝘁𝗶𝗻𝗴 We're pleased to announce that BIOCAPTIVA will be attending and sponsoring the One Health Genomics Edinburgh (OHGE) Community Meeting on 7 June 2024! 🌍🔬 📅 𝗘𝘃𝗲𝗻𝘁 𝗗𝗮𝘁𝗲: 7 June 2024 📍 𝗟𝗼𝗰𝗮𝘁𝗶𝗼𝗻: The Nucleus Building, Kings Buildings Campus, Edinburgh OHGE is a dynamic, cross-college, cross-campus, and cross-discipline community of genomics researchers at the University of Edinburgh. This inclusive group brings together individuals utilizing genome technologies and information through both wet lab and computational approaches. OHGE's goal is to support, promote, and unite the Edinburgh genomics community, fostering the exchange of knowledge and ideas, and stimulating new collaborations to tackle pressing global challenges that impact human, animal, plant, and ecosystem health. As a sponsor, BIOCAPTIVA is dedicated to advancing the integration of these diverse fields, driving innovation, and promoting sustainable health solutions. We look forward to engaging with fellow researchers, sharing our latest advancements, and exploring new opportunities for collaboration. Join us at our booth to learn more about how BIOCAPTIVA is contributing to the future of genomics. Let's connect and work together to make a meaningful impact! 🔗 𝗥𝗲𝗴𝗶𝘀𝘁𝗲𝗿 𝗛𝗲𝗿𝗲: https://lnkd.in/eV-Fi7hc #BIOCAPTIVA #OneHealthGenomicsEdinburgh #Genomics #HealthcareInnovation #Sustainability #ScientificAdvancement

On May 23, we had the privilege of joining industry leaders and experts to discuss the future of genomics in Poland and Europe. It was an inspiring event focused on paving the way for our country's involvement in European genomic initiatives like +1MG. A big thank you to the organizers for hosting this incredible event. We are thrilled to have attended the inaugural Polish Genomics Day organized by Łukasiewicz - PORT The main topics covered during the event included: ✅ The current technological status and future directions of genomics and related fields such as biobanking in the EU and Poland. ✅ EU programs and genomic policy in Europe. ✅ The development of genomics in Poland over the coming years. ✅ Collaboratively creating a 10-year roadmap for genomics in Poland. We are excited about these initiatives and look forward to contributing to the advancement of genomics in our country and Europe. The collaboration and knowledge shared at this event are crucial steps towards a brighter future in the field of genomics. #Genomics #PolishGenomicsDay #Innovation #Intelliseq

🌟 𝐄𝐱𝐜𝐢𝐭𝐢𝐧𝐠 𝐆𝐞𝐧𝐨𝐦𝐢𝐜 𝐁𝐫𝐞𝐚𝐤𝐭𝐡𝐫𝐨𝐮𝐠𝐡: 𝐓𝐡𝐞 𝐅𝐢𝐫𝐬𝐭 𝐇𝐮𝐦𝐚𝐧 𝐏𝐚𝐧𝐠𝐞𝐧𝐨𝐦𝐞!🌟 I am thrilled to share a groundbreaking milestone in the field of genomics - the creation of the first human " 𝐏𝐚𝐧𝐠𝐞𝐧𝐨𝐦𝐞! This monumental project, spearheaded by a consortium of international scientists, aims to catalog genetic diversity across different populations, significantly enhancing our understanding of the genetic basis of diseases and traits. 𝐊𝐞𝐲 𝐇𝐢𝐠𝐡𝐥𝐢𝐠𝐡𝐭𝐬 𝐨𝐟 𝐭𝐡𝐞 𝐏𝐚𝐧𝐠𝐞𝐧𝐨𝐦𝐞 𝐏𝐫𝐨𝐣𝐞𝐜𝐭: 🔍 𝐂𝐨𝐦𝐩𝐫𝐞𝐡𝐞𝐧𝐬𝐢𝐯𝐞 𝐆𝐞𝐧𝐞𝐭𝐢𝐜 𝐃𝐢𝐯𝐞𝐫𝐬𝐢𝐭𝐲: Unlike previous efforts that focused primarily on individuals of European descent, the pangenome project includes diverse populations, ensuring a more accurate and inclusive representation of human genetic variation. 💡 𝐄𝐧𝐡𝐚𝐧𝐜𝐞𝐝 𝐔𝐧𝐝𝐞𝐫𝐬𝐭𝐚𝐧𝐝𝐢𝐧𝐠 𝐨𝐟 𝐇𝐮𝐦𝐚𝐧 𝐆𝐞𝐧𝐞𝐭𝐢𝐜𝐬: By capturing the full range of genetic variation, the pangenome provides a more complete reference for studying human genetics, aiding researchers in identifying genetic factors associated with diseases and traits across different ethnic groups. 🔬 𝐈𝐦𝐩𝐥𝐢𝐜𝐚𝐭𝐢𝐨𝐧𝐬 𝐟𝐨𝐫 𝐏𝐞𝐫𝐬𝐨𝐧𝐚𝐥𝐢𝐳𝐞𝐝 𝐌𝐞𝐝𝐢𝐜𝐢𝐧𝐞: The insights gained from the pangenome project will be instrumental in developing targeted therapies and personalized treatments, improving healthcare outcomes for individuals worldwide. 🌐 𝐂𝐨𝐥𝐥𝐚𝐛𝐨𝐫𝐚𝐭𝐢𝐯𝐞 𝐄𝐟𝐟𝐨𝐫𝐭:This project is a testament to the power of international collaboration, bringing together leading scientists and researchers from various institutions to achieve a common goal of advancing human health. The 𝐏𝐚𝐧𝐠𝐞𝐧𝐨𝐦𝐞 project represents a giant leap forward in our quest to understand human biology and develop targeted therapies for various genetic conditions. It promises to revolutionize medical research and patient care, making healthcare more precise and inclusive. 📚 **Read more about this groundbreaking project here**: [Nature](https://lnkd.in/g87EDaEQ) Let's celebrate this incredible achievement and the bright future it promises for medical research and patient care! #Genomics #Pangenome #GeneticDiversity #MedicalResearch #HealthcareInnovation #PersonalizedMedicine #Biotechnology #Science #Research

It is with great pleasure to publish a review paper with Debora Dummer Meira in Heliyon, where we summarised and described the impact of bioinformatics in the COVID-19 pandemic. This idea was fuelled by our conversations in Brazil, where my team was conducting a workshop in UFES - Universidade Federal do Espírito Santo . Since then, we had numerous exchanges discussing how we can make the content useful and relevant, especially since the technology and COVID-19 situation was rapidly evolving as we were writing! Eventually, we concluded that the use of bioinformatics was most impactful in diagnostics, vaccine and drug development, and in the understanding of severe COVID-19 pathogenesis. It was amazing to see so many bioinformatics tools developed for virus sequencing, multiomics data analysis, protein structure prediction and antigen design. Finally, we shared our perspectives on the importance of collaborations between scientists with diverse skills and knowledge. We also envision the increasing demand for scientists who are multidisciplinary, to create innovative solutions for infectious disease management and vaccine development. It was such an enjoyable experience working with Debora Dummer Meira, so thank you for the opportunity! For more details, please check out the link attached in the comments. #COVID19 #bioinformatics #research #publications

🌟 Excited to Expand My Horizons in Microarray Data Analysis! 🌟 I recently had the incredible opportunity to attend a workshop on Microarray Data Analysis, and it was truly an enriching experience! 🧬💻 The session provided valuable insights into: Understanding microarray technology and its applications in genomics research. Hands-on training in analyzing and interpreting large-scale data sets. Exploring bioinformatics tools to uncover meaningful patterns in complex data. As a researcher interested in drug discovery and cancer research, this workshop has enhanced my skills in applying bioinformatics techniques to real-world challenges. I’m excited to integrate these learnings into my research endeavors and contribute to advancing healthcare solutions. I want to express my heartfelt thanks to the organizers, instructors, and fellow participants for making this event so engaging and informative. Networking with like-minded professionals was truly inspiring! #MicroarrayAnalysis #Genomics #Bioinformatics #CancerResearch #LifelongLearning

🌍 Bridging the Genomics Diversity Gap 🧬 Thrilled to announce the publication of our perspective in Cell Genomics: "Bridging Genomics' Greatest Challenge: The Diversity Gap". This work highlights the urgent need for equitable representation in genomic datasets and provides actionable insights to address disparities in genomic research and healthcare outcomes. Key takeaways: ✅ Quantitative insights into representation disparities in global genomic datasets. ✅ Strategic inclusion as a pathway to equitable healthcare outcomes. ✅ Practical recommendations for improving diversity in genomic research. Read the full article https://lnkd.in/eJN7z77V Very grateful to my fellowship supervisor Manuel Corpas for his leadership on this publication #genomics

We were thrilled  to participate in and support the recent Bio3 conference 2024 🎉 . A big thank you to Bio-Innovation Greece and the core organizing committee Georgia Kokaraki PhD, PMP, Nikos Kyrpides, Georgios Pavlopoulos, Michalis Hadjithomas for inviting us and for putting together such an outstanding event, bringing together a remarkable concentration  of knowledgeable individuals and groups from industry and academia. This initiative successfully united a diverse range of professionals from bioinformatics, biotech, and pharma. Through inspiring presentations and panel discussions it sparkled valuable conversations about the challenges faced by  both in the academia and industry offering fresh perspectives. We had  a great opportunity to expand our network, deepen our expertise, and share insights from our vision and work with the community. Highlights Booth: Our team engaged with numerous professionals at our booth, discussing our technical innovations and exchanging ideas with peers from both academia and industry. Special thanks 💚 to Aigli Korfiati, Afroditi Kravari, and Nikolaos Mourdoukoutas for their valuable contribution and continuous support. Presentation: Within the 4th day devoted to "AI in Drug Development" and the session chaired by Michalis Hadjithomas we attended 👀 exciting presentations from all speakers: Stavros Papadopoulos, Yiannis Kourmpetis, PhD, and Christina Koutsoumpa, PhD, elaborating on complementary aspects such as Tile-DB and multiomics databases, AI-assisted targeted innovation/ patent strategy, and medical imaging. Vassilis Pitsikalis took the stage to present our work in the area, emphasizing the importance on integrating interdisciplinary domain knowledge to develop trustworthy and interpretable AI models.  👉 Feel free to connect with us ! We look forward to understanding the challenges the community faces and building impactful collaborations to develop  effective real-world healthcare solutions. #Bio3 #MachineLearning #Bioinformatics #Biotechnology #Deeplab #BioInnovation

Hey everyone! AlphaFold 3, a groundbreaking innovation from Google DeepMind and Isomorphic Labs, is poised to reshape the landscape of science and technology. 🔬 This holds tremendous potential for advancing research in bioinformatics and unlocking new insights into the complex world of biology.🧬 Do explore the visually stunning graphical representations of protein structures generated by AlphaFold 3. These visuals offer a fascinating glimpse into the inner workings of life systems, opening doors to countless possibilities in scientific exploration and innovation. 💻 #alphafold3 #googledeepmind https://lnkd.in/g9izH9fe

If you’re in the bay area, come check out Jack DiGiovanna and the legendary David Roberson talking about Velsera and machine learning, and how we support accelerating precision medicine. Register below 👇🏻 #bioinformatics

🎂 This year we’re celebrating EMBL’s 50th anniversary as well as 30 years of excellence in bioinformatics at EMBL-EBI. Explore the latest milestones in our history of enabling discovery through bioinformatics and open data in EMBL-EBI’s 2023 Highlights report. Find out what some of our funders and collaborators have to say about us, and meet some of the exceptional people working behind the scenes to keep the data flowing. Here’s to many more years of innovation and collaboration! 🎉 https://lnkd.in/eMsY4Wi4 #EMBLEBI30 #EMBL50 #bioinformatics #FAIRdata #openscience #AI #genomics #structuralbiology #infectiousdisease #omics #microbiome #metagenomics #chemistry EMBL UK Research and Innovation Wellcome Trust European Commission The National Institutes of Health EMBL-EBI Training Ensembl Protein Data Bank in Europe (PDBe) Open Targets  European Genome-phenome Archive (EGA) European Nucleotide Archive InterPro/Pfam CancerModels.Org SciLifeLab Wellcome Sanger Institute