Genomic Data Infrastructure (GDI)

The Global Alliance for Genomics and Health (GA4GH) Product Steering Committee has approved the release of two new GA4GH products: refget Sequence Collections and Variation Representation Specification (VRS) v2.0. Refget Sequence Collections embeds a standard algorithm to assign a unique identifier for a collection of sequences. Product development was led by Nathan Sheffield (University of Virginia), Timothee Cezard (European Bioinformatics Institute | EMBL-EBI ’s), Andy Yates (European Bioinformatics Institute | EMBL-EBI), Sveinung Gundersen (ELIXIR Norway; Universitetet i Oslo (UiO) | University of Oslo), Shakuntala Baichoo (Peter Munk Cardiac Centre - Artificial Intelligence), and Rob Davies (Wellcome Sanger Institute). Read more about refget Sequence Collections here: https://hubs.li/Q03dFDGd0 -- VRS establishes a standardised computational language that enables integration of variant evidence across different sequence collections used by resources in order to advance a broader framework for sharing variant knowledge. Product development of VRS v2.0 was led by Alex H. Wagner, Ph.D. (Nationwide Children's Hospital), Larry Babb (Broad Institute of MIT and Harvard). Read more about VRS v2.0 here: https://hubs.li/Q03dFCYn0

??Check out the 8th issue of the GDI newsletter: https://loom.ly/mv0Wo5Q In this issue, the highlight topics ? covered include: ?? #1MGenomes Initiative videos for citizens and healthcare professionals ?? GDI technical infrastructure demonstration videos ?? B1MGplus Project project launches

Exciting News from the Genome of Europe! We’re thrilled to share the very first newsletter of the Genome of Europe, a major pan-European initiative contributing to the 1+ Million Genomes project. This ambitious collaboration aims to build a high-quality, secure, and diverse genomic data infrastructure to drive innovation in healthcare, research, and personalized medicine across Europe. ?? In this edition, you’ll find key project updates, insights from our partners, and the latest developments shaping the future of genomic research. ?? Read the newsletter ?? Join us on this journey towards a healthier and more personalized future! #GenomeOfEurope #1MillionGenomes #Genomics #HealthInnovation

Last October, the GDI project published ?? guidelines for creating a national 1+MG communications and outreach strategy. The 1+MG videos ?? released last week are a new way to share how the Initiative is creating a ?? genomic data infrastructure to enable secure cross-border access to genomics and clinical data across Europe. Watch the video now to know more about the #1MGenomes Initiative ??

The #1MGenomes Initiative is critical for healthcare research, ?? but you might ask what does it have to do with the public? 1?? Firstly, we can decide whether we want to share our data or not. 2?? Secondly, sharing high quality genomic data and clinical data securely ?? could advance the development of personalised medicines for better diagnostics and prevention! ?? Watch the video to find out more about the 1+MG Initiative and the GDI project and our efforts in transforming #healthcare together??

?? The aim of the #1MGenomes Initiative is to provide secure access to high quality #genomicdata together with clinical data. This can help ?? healthcare professionals identify the most effective treatments for patients. ?? This GDI project video explains the benefits of the 1+Million Genomes Initiative to #healthcare professionals. Check the video to find out about the experiences of four European 1+MG signatory countries and how the Initiative can revolutionise healthcare in Europe ?? and benefit citizens ??

?? Looking forward to close collaboration with B1MGplus Project! #1MGenomes

?? What is the 1+Million Genomes Initiative? How will the Initiative benefit you? ?? To answer these questions, the Genomic Data Infrastructure (GDI) project has released three videos about the #1MGenomes Initiative. In the videos, we interviewed ??? the GDI Coordinator and partners and experts from Finland, Sweden, Italy and Ireland to highlight how the Initiative and the project could benefit different stakeholders, including healthcare professionals, researchers, patients and citizens ??. ?? As our interviewees addressed in the video, “#Genomics ?? has the potential to revolutionise healthcare, develop more targeted #PersonalisedMedicines, therapies and interventions to enable better diagnostics a prevention.” Check the videos ?? https://loom.ly/h_odqZM (The videos are filmed and edited by indiepics.)

?? The European Genomic Data Infrastructure (GDI) and Genome of Europe (GoE) have formally announced a strategic collaboration by signing a Memorandum of Understanding. ?? This collaboration will stimulate knowledge exchange between GDI and GoE projects to advance ?? population #genomics research in Europe and enable access and analysis of data across the national borders of participating countries. Read the news: https://loom.ly/b56mDyk #1MGenomes

?? How do we determine whether a health condition is related to a specific gene? The answer lies in variant summary data ?? - data that summarises information about #gene variants. ?? This GDI demonstration video showcases how to look up variant summary data in and across GDI datasets. Using severe #COVID19 conditions as an example, the video demonstrates a clinician using the GDI allele frequency browser to find out ?? whether the DNA change found in a patient is related to severe COVID-19 outcomes. Watch the video: https://loom.ly/XKJ-bok #1MGenomes