Simone Ahting
@ahtingsi
Human Geneticist at the Institute of Human Genetics Leipzig @hug_leipzig🔬🧬@UKL_leipzig | @juhumgen
ID: 1667470621674971137
10-06-2023 09:56:25
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31 Followers
44 Following
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/…
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.
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
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…
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 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 🙌