Looking forward to #eshg2024! Four days of fascination for genes ahead of us 🙌 If you want to learn from our project on parental mosaicism of de novo variants in a large family cohort 📆 04.06. 11.00 @Fantastics OMICs session. Slides in preparation 📊

Happy to share our analysis on incorporating the  gnomad v.4.0 exome dataset in a diagnostic setting. Find direct links to newly represented potential relevant ClinVar variants on poster P15.002.B  #eshg2024 tinyurl.com/5595utwd

The Chromatones on a post conference run this morning in Berlin. Thanks for bringing your energy to the dance floor the other night #ESHG2024 Celine Lewis

Figeno, my visualization tool for genomics🎨🧬, is now published in Bioinformatics! doi.org/10.1093/bioinf… It can generate publication-quality figures for sequencing data along genomic coordinates: bigwig, HiC, Oxford Nanopore data with base modifications, and WGS with CNAs and SVs.

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…

Thank you The RNA Society for your support, awarding me the Eclipsebio graduate award in high-throughput biology for my PhD work with Oxford Nanopore sequencing, and for organising the #RNA24 conference!

We explored why pathogenic variants are present in the gnomAD database for early-onset, severe, dominant conditions. Explanations identified for most but some likely due to incomplete penetrance though more study needed. 1/3

Julia Hentschel Isabell Schumann & Johanna Moch, Maximilian Radtke, Thomas Liehr, Thomas Eggermann, Christian Gilissen, Rolph Pfundt, Galuh Astuti 🤝

SpliceVarDB: A comprehensive database of experimentally validated human splicing variants #RareDisease #Genetics #splicing cell.com/ajhg/fulltext/…

This is such a beautiful paper led by Christel Depienne and Caroline Nava, further characterising ReNU syndrome (caused by variants in RNU4-2) and also detailing a role for RNU5B-1 in NDD 🧬 Some highlights 🧵1/8

Direct RNA sequencing can only be done using Oxford Nanopore . I didn’t realize that there are 100+ different kinds of RNA modifications ! Slide also from Morghan Lucas, MGZ Munich

Missense Z scores based on Genome Aggregation Database v4.1 are now available on gene pages. These scores measure the amount that a gene is constrained for missense variants.

The MorbidGenes panel: a monthly updated list of diagnostically relevant rare disease genes derived from diverse sources #RareDisease #Genetics link.springer.com/article/10.100…

In addition, we will present 9 abstracts as posters. 😀 Great work by the team. It's going to be an awesome conference. See you there. 👋 gfhev.de/tagungen-und-f…