Robin Jauss

Our MorbidGenes panel comprising all genes of diagnostic relevance is now available at morbidgenes.uni-leipzig.de 🧬 Also check out our recent preprint on how the panel is generated 👇

Reimbursement of clinical genome sequencing is about to start in Germany, and here are this quarter's climbers in the #ClinVar charts: Tuebingen, Goettingen, Bonn, Bochum, and Duesseldorf. Congrats! What do you want to see next?

Find our complete list of candidate genes on Zenodo! 👉 doi.org/10.5281/zenodo… If you see your favorite gene in our list, drop us a message to get in touch 🤙

Many of our candidate genes have already been published 🧬 but for most, there is still some work to do 🧑‍🔬

Fantastic talk from our MD Student Alexandra Golod at the #GfH2023 on our research output from ~2000 trio exomes 👌👇

Let's also appreciate that @lemke_johannes is present at the #GfH2023 😎

@juhumgen @hug_leipzig goes #GFH2023

Hey #GFH2023. I have noticed that OMIM is often the reference for gene-disease associations. Unfortunately, new curation of new genes is often a delayed. But there is hope for you from @hug_leipzig morbidgenes.org

#TeamHUG des @UKL_Leipzig im Jahr 2022! 👏 💪

Indeed it was great having @ChristelDepienn for the 1st time at @hug_leipzig. Learning about repeats in 🧠 disorders & the FAME discovery story from start to finish. Many overlaps to our work & potential for collaborations… 🤝 @RamiJamra @lemke_johannes @RTJauss @DennyPopp

ClinVar analytics: let's analyze the Leipzig case in more depth. It's a team of around 8 clinician-scientists that see patients. In average, the team shares 20 variants per week with the community. Their PLU ratio is roughly 1:1:1

Here are the ClinVar charts for Q4 2022 and a lot has happened! Vizemeister ist nun wieder Tübingen vor Dresden. München schließt auf zu den Medaillenrängen. Münster rückt 5 (!) Plätze vor. Ebenfalls aufgestiegen sind Schleswig Holstein und Berlin. congrats!

But how exactly can clinicians in routine diagnostics contribute to the delineation of rare disorders ❓ 1. Upload your variants to public databases like #ClinVar 🖥️ 2. Perform regular re-evaluations 💡 3. Write case reports or contribute your variants to larger cohorts 👥

In a retrospective evaluation of nearly 10k NGS analyses, we validate and delineate novel gene–disorder associations and provide additional evidence for rare or novel disorders 📋 The data was generated as part of our routine diagnostics, without extensive research efforts 🔬

🚨 Happy to share my first paper in the field of Human Genetics! 🧬 Routine diagnostics can in fact provide valuable information on disease associations & novel #MorbidGene|s. A thread & feasible recommendations for diagnostic departments with @RamiJamra: mdpi.com/2073-4425/13/1…

finally🤩the NovaSeq 6000 is here. Next date is the handover and introduction by @illumina for our team. We can't wait to get started! #innovation #NovaSeq

Work with us at the @hug_leipzig linkedin.com/jobs/view/3234…

🚨 Now out in AoO w/ our own @Stephan_HolgerD formerly at TU DD: „14% of patients with rare cancers and/or younger age of onset carried a pathogenic germline variant. 45% of all P variants supported informed therapeutic recommendations w/ a therapeutic benefit in 40%.“ 👌 👇

🚨 Case report in @EpilepsiaJourn on a first AR #GRIN2A family by our colleagues @lemke_johannes & Vincent Strehlow w/ @SteveTraynelis. „There are marked parallels to two previously published families w/ severe epileptic encephalopathy due to homozygous null variants in #GRIN1“

Our work on gene expression profiling in patients with 15q13.3 microdeletion syndrom has just been accepted for publication in Scientific Reports @SpringerNature medrxiv.org/content/10.110… a concerted effort of @authors. 🧠🫂 🧾 Have a relaxing weekend! #NewsUpdate #HappyFriday