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Wir wollen ein Land, das funktioniert, in dem das Leben bezahlbar ist und Klima & Natur geschützt werden. Wir investieren in unsere Zukunft, eine innovative Wirtschaft, ein stabiles Klima, mehr Gerechtigkeit und Frieden in Freiheit in 🇪🇺. #TeamHabeck

🎓Registration is now open for the Clinical Genomics & NGS Course (May 4–9) in Bertinoro, Italy. 💼 Scholarship application deadline for ESHG Precision Medicine Hybrid Workshop (April 9–11) is January 26. More information on these and other ESHG courses: eshg.org/courses

Our wonderful course in beautiful Bertinoro is coming up again! Strongly recommended - great speaker line-up once again! European Society of Human Genetics (ESHG) eshg_young Human Genetics Nijmegen, Radboudumc Junge Humangenetik Società Italiana Genetica Umana BeSHG

One more week until the abstract submission deadline for #eshg2025 #hybridconference! Do not forget to submit your abstract until Thursday, January 30, 2025, 23.59 h CET. All information can be found on our website: 2025.eshg.org/abstracts/ #genetics #genomes

Rare diseases affect millions. At UKSH Universitätsklinikum Schleswig-Holstein , Germany's second-largest hospital, we hosted a direct face-off between standard-of-care methods, singleton genome sequencing, and trio genome sequencing in real-world clinical settings. #PrecisionMedicine #RareDiseases

We compared: 1️⃣ Standard-of-care methods (SoC: exome sequencing, karyotyping, array-CGH) 2️⃣ Singleton genome sequencing (sGS) 3️⃣ Trio genome sequencing (tGS) Can genome sequencing outperform traditional methods? #GenomicsResearch

Over 1,000 individuals from 448 rare disease cases participated. In this blind study we examined the diagnostic yield analyzing both prospective and retrospective data. #GenomeSequencing

Key Results: •tGS achieved the highest diagnostic yield (42.2% P/LP). •sGS followed closely at 41.3%, missing only de novo scientific variants. •GS outperformed SoC (38.6%) by better identification of non-coding, intronic, and STR variants. #RareDiseaseDiagnosis

✅ Trio sequencing is the most comprehensive but costly. ✅ Singleton sequencing cost-effective alternative. ✅ Genome sequencing is poised to replace traditional methods as the gold standard. #InnovationInHealthcare

Preprint to our full study here: medrxiv.org/content/10.110… Let’s transform rare disease diagnosis with genome sequencing. Join the conversation below or reach out for collaboration! 🧵👇 #RareDiseases #Genomics With Malte Spielmann and Inga Nagel

Excited to share our new preprint about comparing different Genome Sequencing Strategies with Standard-of-Care Approaches, led by Daniel Kaschta! 🚀 Dive into the findings in the tweetorial below. Your thoughts and feedback are most welcome! Universitätsklinikum Schleswig-Holstein

And here is the link to the preprint: medrxiv.org/content/10.110…

A very innovative approach to cancer: engineering fat cells to convert to beige fat to starve tumors, outcompeting 5 types of cancer in experimental models nature.com/articles/s4158… Nature Biotechnology Nadav Ahituv UCSF School of Medicine

#IPNA2025 Update on Inherited Diseases: Awesome speakers this morning. I gave a quick rundown on which children to test! Paeds Nephro is really using genomics to benefit our patients! Time for #Africa to adopt #genomics in kids kidney care! RareDiseaseGenomicsRSA >50% diagnosis!

Howdo genome sequencing strategies stack up for diagnosing rare diseases? In our preprint we compare GS and standard-of-care approaches in 448 cases. The results could transform your rare disease diagnostics! 🧬 #RareDiseases #Genomics 🧵👇

One week left to apply! Don’t miss out on some awesome rare disease genomics in Hinxton

The first episode of our #ESHG Webinar Series was a great success! The recording is now on YouTube. 🔜 Episode 2 – March 26, 16:00 CET 📌 "The non-coding exome in rare disease" 🎙️ Nicola Whiffin Join for free on Zoom! Register here: buff.ly/l6d0fai

Leitung des zytogenetischen Labors am Uniklinikum Heidelberg neu zu besetzen. karriere.klinikum.uni-heidelberg.de/index.php?ac=j…

🚀 Exciting news for early-career researchers! The new Max Planck #Postdoc Program offers a guaranteed contract of at least 3 years, targeted mentoring, and career workshops. Applications are open now! postdocprogram.mpg.de #ScienceCareer #PostdocProgram

The recording of the second episode of our #ESHG Webinar Series is now on YouTube. 🔜 Episode 3 – April 30, 16:00 CEST 📌 "Making sense of genetic associations" 🎙️ Zoltan Kutalik Join for free on Zoom! Register here: buff.ly/l6d0fai