GWAS Catalog

We are excited to announce that our latest publication on the NHGRI GWAS Infrastructure update is now published in NAR Nucleic Acids Research 🎉 https://lnkd.in/e-xCz2NA For a quick summary, please check our blog! https://lnkd.in/d44AD6Vt 𝗚𝗪𝗔𝗦 𝗗𝗮𝘁𝗮 𝗶𝘀 𝗕𝗶𝗴 𝗗𝗮𝘁𝗮 You can also take a quick glance at the attached for a quick insight on the technical services we build, that does the heavy lifting behind the scene, from #datadeposition, to #datavalidation, to #dataintegration, to #data #harmonization, #ontology integration for #semanticsearch, #userpresentation etc. 👏👏👏 to my team members Ala Abid , Sajo John , Karatuğ Ozan Bircan, Laura Harris , Elizabeth Lewis , Elliot Sollis , Maria Cerezo , Santhi Ramachandran , Yue Ji #openaccess. #diversity #FAIRprinciples #biotechnology #bigdata https://lnkd.in/e4mduztN

Polygenic scores (PGS) offer insights into an individual’s genetic predisposition to certain traits or diseases. Join our upcoming #webinar to learn how to use the PGS calculator for calculating polygenic scores. Registration is free but essential: https://lnkd.in/eAE-abUZ Speakers: Sam Lambert and Benjamin Wingfield #DataScience #Bioinformatics #genomics #genetics #geneticresearch #openaccess European Bioinformatics Institute | EMBL-EBI

We are happy to announce that our latest resource update paper has been published in NAR Nucleic Acids Research! 🎉 For a quick summary, please check our blog! https://lnkd.in/d44AD6Vt #openaccess #diversity #FAIRprinciples

Meeting several of our #gwasdatahero during the #ASHG2024 was fantastic! ⌛ It's time for a wrap-up! 💪 GWAS continues to be a methodology heavily used in the genetic community. Seeing our logo and the GWAS Diagram in multiple presentations and posters was great! (attached only a few of them) Thanks!! 📊 GWAS results continue to be the starting point for multiple analyses, not only for fine mapping and identifying effector genes, but there is an increased number of Polygenic Scores (check @PGSCatalog!!)  or Mendelian Randomisation 🤝 Integration with other -omics is starting to be more frequent as a holistic approach to understanding the biological mechanism 👨👩👧👦 “AllofUs” will increase their presence in the Catalog in future. Do you know how you can access cohort annotation in the GWAS Catalog?  Homepage -> Downloads -> Studies 🌈 Genetic diversity is critical! Several sessions and fantastic presentations about multiple initiatives to increase the number of studies from non-European ancestry backgrounds. We presented the current diversity data in the GWAS Catalog and asked you about population descriptors. ✍ Our survey about that is still open! (http://shorturl.at/kkCEZ) Please share with us your preferences before 1st December. Help us to shape the future of the GWAS Catalog! 🔒 🔐 🔓 Interesting discussions about the benefits of open access data for the genetics community and, at the same time, the challenge to balance data protection for minorities 🖥 🧠 The use of AI is changing the speed of the results and the integration of multiple types of data. There is a fascinating future ahead! Last but not least, thanks to the American Society of Human Genetics 2024 organisers for giving us the floor with a presentation, thanks to all the attendance and thanks to everybody for continuing the science, which keeps us adding more and more data Something else you find interesting?? Add it in the comments! Hope to meet you next year in Boston!

🚀 Shape the Future of the National Human Genome Research Institute (NHGRI) European Bioinformatics Institute | EMBL-EBI GWAS Catalog! 🚀 Which helpful information would you like to see in the GWAS Catalog regarding population descriptors? Considering the NASEM Health and Medicine Division Report (Using Population Descriptors in Genetics and Genomics Research) and your feedback, we are reviewing the information reported in #gwas, which could be recorded for your downstream analysis. Please help us: 📝 Filling out the survey (less than a minute!) open until 1st December https://lnkd.in/dr5Nv2hb 🗣️ Sharing this post (ask your colleagues to contribute) We will discuss this and more next week at the American Society of Human Genetics; join us!! Let's build this together! #OpenAccess #ResearchCommunity #DataSharing #diversity #FAIRprinciples

I'm really happy to have been involved in writing this paper together with Tomas Fitzgerald, Ellen McDonagh and many other collaborators. It's also an interesting challenge to prepare the GWAS Catalog for new data types. CNVs have such a clear link to function and there's a great appetite in the genomics community to move things forward and represent CNV associations in a FAIR way that can be integrated with SNPs. Watch this space!

REMINDER! Less than a month for the American Society of Human Genetics 2024! 🤓 Interested in #gwas #diversity? WHAT: Session 13 - Biobank Scale Genetic Data Resources for Studying Complex and Rare Human Diseases Abstract Title: 🌈 Diversity in the NHGRI-EBI @GWAS Catalog: addressing disparities while promoting accessibility and data sharing WHEN: 6th November 2024 at 9:00 AM MT WHERE: Mile High Ballroom 2&3, Colorado Convention Center Check our 📊updated diversity analysis https://lnkd.in/d--kg2W2 Submit your data https://lnkd.in/dWxAk-WB

Happy birthday Open Targets! We've enjoyed celebrating 10 years of innovation and achievement today.....looking forward to the next 10! 🥂 #OpenTargetsAt10

Many thanks to Human Ecosystems at EMBL for supporting this NEW feature to help you find GxE GWAS in the Catalog. Check it out in the video below! 👇 You can also filter for all studies that are based on whole exome or whole genome sequence (seqGWAS)!

If you are going to #ASHG2024 and you are interested in #diversity in #gwas, please do contact our teammate Maria Cerezo. Join our presentation and/or contact her during the conference! It will also be your opportunity to obtain your pin badge as #gwasdatahero!