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Lannoo et al. examined whether rare autosomal trisomies revealed by noninvasive prenatal screening reflect fetal trisomy or confined placental mosaicism and whether they are associated with ⬆️ likelihood of adverse perinatal outcomes. Full correspondence: nej.md/3RVX34b

in case you're wondering how stable the 3D genome is

👋We are hiring a PhD student for rare disease diagnostics project #genetics #RareDisease #WGS #ONT #AI #job #PhDposition #Rotterdam Erasmus MC WerkenbijErasmusMC : PhD student interested in improving diagnostics for patient with rare genetic disorders werkenbijerasmusmc.nl/en/vacancy/101…

Kabinet werkt hard aan kunstvrije generatie - Samen op weg naar een kunstvrije generatie speld.nl/2024/09/13/kab…

A Sunday read for you. A new blog post on a discovery of a noncoding mutation that causes a Mendelian cardiac arrhythmia through a fascinating mechanism: de novo creation of cardiomyocyte-specific enhancer. This adds to the list of my favorite noncoding discoveries that I've

13:00 Experts: toneelspel Yeşilgöz valt onder hoog btw-tarief. #AlgemeneBeschouwingen #APB #APB2024 speld.nl/2024/09/18/liv…

📢📢📢Opportunity for young geneticists! European Society of Human Genetics (ESHG) opens application for the ESHG Mentorship Programm! Apply until 30th November, find your mentor, bild a a collaborative learning relationship, and discover new possibilities than can continue over time! 👩‍🎓👨‍🎓 eshg_young

Excited to share that denovo-db is now available on Zenodo (doi.org/10.5281/zenodo…)! The new version of denovo-db contains >1 million de novo variants from published data on >70,000 individuals. After much thought, this feels like the right step for sharing with the

Somatic repeat expansion field is getting more interesting!! David Pellerin⁩ ⁦National Ataxia Foundation⁩ ⁦Ataxia Global Initiative⁩ ⁦FA Research Alliance⁩ #Sca27b ⁦Bill Nye⁩ “Somatic instability of the FGF14-SCA27B GAA•TTC repeat with expansion in cerebellum” academic.oup.com/brain/advance-…

Free scientific illustrations for biologists! 😍 NIH has released a library of 500+ free scientific illustrations to create figures, presentations, and illustrations! all freely available in the public domain. Retweet and spread the message! bioart.niaid.nih.gov

Nederland staat er weer goed op. Vandaag in Nature👇

Updated VISTA Enhancer Browser, 7 years in the making, out in Nucleic Acids Res! >4,500 transgenic in vivo enhancer experiments for all your developmental biology, human variation and #evodevo needs. enhancer.lbl.gov #enhancers #embryos doi.org/10.1093/nar/gk…

Misschien moeten de mannen maar eens thuisblijven? Tis maar een idee

I knew there were a lot of fake accounts on this platform, but they are usually obvious. I had no idea how intricate and complex the ruse could be. Get a load of this story. 1/

Analysis of sequencing data of 320k individuals (75k cases and 245k controls) shows heterozygous carriers of cystic fibrosis mutations are protected from inflammatory bowel disease. The protection mechanism could be due to an altered gut mucosal barrier that resists penetration

Very happy to be one of the ZonMw Clinical Fellows grant awardees this year! Thanks to all colleagues for the help and support, especially Lisenka Vissers Alexander Hoischen and @WendyStams Looking forward to finally have more time for research again! 🧬👩‍🔬 zonmw.nl/nl/nieuws/18-g…

Wow! 😀

Great (and scary) visualization of 2024 daily temperatures compared to prior years by the BBC today. Evocative of the iconic Joy Division album cover from 1979: bbc.com/news/articles/…

Image a set of 100 rare disease cases with the most difficult-to-detect mutations a human genetics lab can be faced with. …many of which very difficult or even impossible to detect with (short-read) sequencing methods, and/or requiring additional orthogonal tests…

It’s a privilege to announce Solve-RD’s latest manuscript based on years of work: “Genomic reanalysis of a pan-European rare-disease resource yields new diagnoses” nature.com/articles/s4159… A thread (1/n)