Review @naturerevgenet.bsky.social @mspielmann.bsky.social
Structural variants in the 3D genome as drivers of disease
www.nature.com/articles/s41...
@kmabbott.bsky.social
Molecular geneticist/Application specialist working in genome diagnostics/rare disease University Medical Center Groningen SNV/CNV pipelines, non-coding pipelines, short/long-read, software/tool testing…
Review @naturerevgenet.bsky.social @mspielmann.bsky.social
Structural variants in the 3D genome as drivers of disease
www.nature.com/articles/s41...
Pangenome-aware DeepVariant https://www.biorxiv.org/content/10.1101/2025.06.05.657102v1
06.06.2025 22:48 — 👍 6 🔁 6 💬 1 📌 0We'll be there! Cambridge Biomedical Campus Jobs and Careers Fair 2025 Sat 21st June 11am- 2.30pm Cambridge Academy for Science and Technology
Interested in a career on the @cambridgebiocampus.bsky.social?
Join us on 21st June at the CBC Jobs and Careers Fair to learn about the opportunities available at the LMB!
cambridge-biomedical.com/event/cbc-jo...
We have 2-3 group leader positions opening @fimm-uh.bsky.social !!
We are looking for outstanding candidates in human genetics and precision medicine.
This time we have a focus on population health data science. E.g. AI for EHR/health data
Generous starting package 💰
shorturl.at/FAk6n
Picture saying We (GHGA) are hiring: a data steward/ bioinformatician in Tübingen
🚨 We're hiring! Join GHGA at the University of Tübingen as a Data Steward / Bioinformatician! 🧬🔍
✔️Manage & curate genomic data
✔️Work with top research networks (GHGA, GDI, GA4GH)
✔️Impactful role in bioinformatics
📅 Apply by March 16, 2025 here: t1p.de/gwhfx
#Bioinformatics #Genomics #ResearchJobs
If you're an early career researcher based in the U.S. and working on 🦠Microbiome Data🧬💻:
The @microbiomedata.org Ambassador Program is a great opportunity to learn, network, and contribute
🎤 It is a pleasure to welcome Itay Tirosh from the Weizmann Institute at [BC]². Itay will present in the session 'Bioinformatics for cancer research'.
🔹Session chaired by @valboeva.bsky.social and @carmonation.bsky.social
👉Interested? Submit your abstract before 27 Feb: tinyurl.com/49w6wthj
Still a bit more than a week left to apply! PhD opportunity in the Beusch lab. Please share to anyone interested in RNA biology 🧪 #RNAsky #RNAbiology
07.02.2025 17:00 — 👍 10 🔁 15 💬 0 📌 1visual for the job ad with pipettes in the background
The research group of Agnes Toth-Petroczy @tothpetroczylab.bsky.social is looking for an experimental Postdoc (m/f/d) in protein evolution of biomolecular condensates. Apply now! careers.mpi-cbg.de/jobs/5312959...
05.02.2025 13:53 — 👍 10 🔁 6 💬 0 📌 0“The leaders of the Human Genome Project always knew they were just starting a conversation”
The human genome encodes potentially thousands of tiny proteins that were previously overlooked. The search is on to find out what they do
https://go.nature.com/3CupmSS
EMBL International PhD Programme Summer Recruitment Applications open. Applications close 10 March 2025.
Recruitment for the EMBL International PhD Programme is officially open! 🔊
At EMBL, we train young scientists to become skilled and creative future leaders in academia, industry & other sectors. Start your career in the life sciences with us!
www.embl.org/about/info/e...
🧪 #AcademicSky #careers
We believe that AI models developed for diagnostic purposes should consider subpopulations and, in particular, should not be blinded to sensitive attributes. “Ethical Use of Artificial Intelligence in Medical Diagnostics Demands a Focus on Accuracy, Not Fairness” by Mert R. Sabuncu, Ph.D., Alan Q. Wang, Ph.D., and Minh Nguyen, M.S.
The authors of a new Perspective argue that #AI tools for medical diagnostics should track and maximize accuracy for all subpopulations, rather than focusing on fairness criteria that quantify disparities between protected subpopulations. nejm.ai/3C1E6bM
#MedSky
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
🚨 Excited to announce the Marker paper for the GREGoR Consortium! arxiv.org/abs/2412.14338
Accelerating #RareDisease diagnostics with cutting-edge #Genomics and global data sharing of omics and deep phenotyping from ~7500 individuals on NHGRI AnVIL and much more to come! 🧬
Great @eshg.bsky.social effort for few science & education. New monthly webinar series - with stellar speakers each month!
#HumanGenetics #Genomics #eshg2025
Thanks for starting this starter pack! Would love to join!
16.11.2024 17:54 — 👍 0 🔁 0 💬 0 📌 0