We not only upload variants from NGS reports, but also from research studies & papers we publish. Most of our #ClinVar submissions are for #CFTR through a registry project run by Julia Hentschel & Simone Ahting w/ Mukoviszidose e.V. 💪 👇 uniklinikum-leipzig.de/einrichtungen/… clinvarminer.genetics.utah.edu/variants-by-su…

The research group (led by Simone Ahting) is using 🧬gene sequencing methods to investigate rare CFTR variants. Mukoviszidose e.V. e.V. is funding the project with 27,305€. 💙 To read more or donate click here: muko.info/einzelansicht/…

The #gnomAD team is proud to announce the release of gnomAD v4! The v4 dataset includes 730,947 exomes & 76,215 genomes, which is ~5x larger than the v2 & v3 releases combined, & includes nearly 120K indivs of non-European genetic ancestry broad.io/gnomad_v4 #ASHG23 (1/11)

Neue S2-Konsensus-Leitlinie zur Diagnose der Mukoviszidose! Mukoviszidose e.V. Unter Mitarbeit von Julia Hentschel & Simone Ahting als Vertreter für die GfH 👇 register.awmf.org/de/leitlinien/…

It was simply awesome that Malte Spielmann visited our institute yesterday & took us on a tour de force through his research… 🚀 🤯 Also a fun dinner later on together w/ Malte. Thanks so much for the visit!

„Absent from gnomAD“ is not what it used to be w/ the new Genome Aggregation Database v4 release. We need to be more tolerable for occurrence of rare disease variants in gnomAD (due to UK Biobank I guess). Overall frequencies should be fine though just total absence should not be expected.

This week we had Ingo Kurth of Aachen visit our institute & talk about his research on CIP/HSAN (congenital insensitivity to pain/hereditary sensory & autonomic neuropathies). 🚀 And as is custom by now, we later had a fun dinner & beer together (+ lots of fries for desert). 😋

Hot off the press: Evaluation of Automated Magnetic Bead–Based DNA Extraction for Detection of Short Tandem Repeat Expansions With Nanopore Sequencing - Journal of Clinical Laboratory Analysis-onlinelibrary.wiley.com/doi/10.1002/jc… #RepeatExpansion #Nanopore #Genomics #DNA

Would you believe me if I told you that a single variant in a non-coding RNA explains ~0.5% of all undiagnosed individuals with neurodevelopmental disorders (NDD) in Genomics England ??? I didn’t initially either, but here is the story of RNU4-2 🧵1/9

Try it Institut für Humangenetik 🧬 | Uniklinik Leipzig ?

Our own #MorbidGene panel in routine genetic diagnostics at Institut für Humangenetik 🧬 | Uniklinik Leipzig. It has a simple logic for inclusion of new genes & its updated monthly... 👇 Robin Jauss @berntpopp Joachim Bachmann Rami Abou Jamra morbidgenes.uni-leipzig.de medrxiv.org/content/10.110…

📰 13 posters are printed, 5 e-posters uploaded and slides are (almost 😉) prepared for 2 oral presentations ✅ we are ready to go and excited to present and discuss our research at #eshg2024.

Let’s dive in and try to understand the non-coding genome #(S04) togehter with Malte Spielmann and Stefan Mundlos! #ESHG2024

Excellent and partly challenging talk by Frank Tüttelmann at #eshg2024 , partly without slides 💪

#eshg2024

#eshg2024 very nice poster presentations today about telomere length estimation in NGS data and allele specific methylation using ONT. Great teamwork Simone Ahting Denny Popp @berntpopp Institut für Humangenetik 🧬 | Uniklinik Leipzig

RT James Fasham: De novo variants in the non-coding spliceosomal snRNA gene RNU4-2 are a frequent cause of syndromic neurodevelopmental disorders #MorbidGene #eshg2024 Paper 1: pubmed.ncbi.nlm.nih.gov/38645094/ Paper 2: nature.com/articles/s4159…

Sunnis shining at the European Cystic Fibrosis Society this morning & we are ready to go!!

What an amazing week! Thanks Alexander Hoischen for arranging this, it was a true pleasure to learn at Nijmegen 🙌