It’s genome time! nejm.org/doi/full/10.10…

open position MGZ - Medizinisch Genetisches Zentrum we are looking for PhD student to join our research team for a project focused on advancing the early detection of tumors using non-invasive methods mgz-muenchen.de/stellenangebot… #liquidbiopsy #Bioinformatics #PrecisionOncology #ctDNA

Original Article: Genome Sequencing for Diagnosing Rare Diseases nej.md/3yP6iwE #Genetics

Excited to share our work on the diagnostic power of genome sequencing when directly assessing cases with exome data - 8% additional yield - if we analyze genomes as more than an exome. Thanks Monica Hsiung Wojcik Rami Abou Jamra Heidi Rehm and Broad CMG GREGoR Consortium collaborators!

Today is #KBG syndrome awareness day; a common neurodevelopmental disorder with around 1000 affected people 🌎 ‼️ Last chance to participate in our study on adults with KBG syndrome 👇 ‼️ chdredcaplive.bris.ac.uk/redcap/surveys… #KBGSyndromeAwarenessDay #KBGgrows #genetics KBG Foundation KBG Syndrome

We just updated our Institut für Humangenetik 🧬 | Uniklinik Leipzig candidate gene list on Zenodo 🧬 240 new entries since our last update in October 2023✅ Great team effort by Rami Abou Jamra Konrad Platzer Robin Jauss Ilona Krey Johannes Lemke Tobias Bartolomaeus et al. 💪 zenodo.org/records/115618…

Led by @harika_urel Helmholtz Munich PhD & Postdoc | Career Center TU München, we Helmholtz AI Vetsuisse-Fakultät Zürich Forschungszentrum Jülich | @[email protected] present first evidence that AI-based analysis of Oxford Nanopore signal data might enable viability-resolved metagenomics – completely for free! biorxiv.org/content/10.110…; a quick thread (0/3):

And one other manuscript went online recently - full protocol for “Optical Genome Mapping for Applications in Repeat Expansion Disorders”. …rentprotocols.onlinelibrary.wiley.com/doi/full/10.10…

So excited that our paper “De novo variants in the RNU4-2 snRNA cause a frequent neurodevelopmental syndrome” is out today in nature nature.com/articles/s4158… 🧵 1/16

Now available: the Institut für Humangenetik 🧬 | Uniklinik Leipzig altAFplotter for the detection of uniparental disomies from NGS data. Enjoy using it! bmcbioinformatics.biomedcentral.com/articles/10.11…

#RepeatExpansionDisorders are up to three times more common than current estimates. Underdiagnosis or reduced penetrance? by our wonderful dream team kibanez Matteo Zanovello Chris Clarkson + Bharati Jadhav & Andy Sharp nature.com/articles/s4159…

Thrilled to share a new preprint on the role of RNU4-2 and RNU5B-1 variants in neurodevelopmental disorders, now online in MedRxiv. 1/12 🧵medrxiv.org/content/10.110…

🆕📰 Thiamine-Responsive Megaloblastic Anemia (#TRMA) #Syndrome mimicking myelodysplastic neoplasm(#MDS): Next-generation-sequencing-based diagnostics revealed a heterozygous missense variant: ↘️ tinyurl.com/ywmdmsmb Johannes Lemke Denny Popp Robin Jauss etc.

🦋 for Science Starter packs for genomics, bioinformatics, #Rstats, Nextflow. Moderation lists. Feeds. Let's rebuild the old scitwitter community and keep this place nice. blog.stephenturner.us/p/bluesky-for-… 🧬🖥️🧪

Detecting Monogenic #Obesity: A Systematic Exome-Wide Workup of Over 500 Individuals. This study aims to assess the diagnostic yield of monogenic obesity using #exome-wide data. Results here: rb.gy/1q2w65 *⃣ by Rami Abou Jamra, Johannes Lemke, Diana Le Duc, Denny Popp ...

Happy to finally share our latest Mendelian gene discovery work on #KDM2A where de novo variants cause a syndromic neurodevelopmental disorder. A great collaboration incl. lab of Udai Pandey, Stephan Drukewitz Dr. Heather Mefford @hcmefford.bsky.social & many more. 👇 #MorbidGene medrxiv.org/content/10.110…

Excited to attend #eshg2025 in vibrant Milan! Poster is mounted, 1st session kicked off with #longreads. what else to do on a sunny Saturday morning 😉