Tobias Bartolomaeus

Sometimes it is worth looking back: We re-analysed and re-evaluated >5 year old exomes of 152 individuals with ID. In 18%, the classification has changed with clinical relevance. nature.com/articles/s4143…

Our paper on how de novo variants in #KDM2A cause a syndromic neurodevelopmental disorder is finally out in @AJHGNews 👇 🎉

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…

@thorburn_mito @WanheeYoon @EllardSian

Anyone out there who is confident in interpreting short read and ONT long read data from the ATAD3 cluster? I am having a bit of a challenge making sense of it in a patient suspected to have a homozygous deletion/rearrangement?

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…

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

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

This is such a beautiful paper led by @ChristelDepienn 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

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

@hentschelju @izzy_schu & Johanna Moch, Maximilian Radtke, Thomas Liehr, Thomas Eggermann, Christian Gilissen, Rolph Pfundt, Galuh Astuti 🤝

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

Thank you @RNASociety for your support, awarding me the @bio_eclipse graduate award in high-throughput biology for my PhD work with @nanopore sequencing, and for organising the #RNA24 conference!

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, @nanopore data with base modifications, and WGS with CNAs and SVs.

We just updated our @hug_leipzig candidate gene list on @ZENODO_ORG 🧬 240 new entries since our last update in October 2023✅ Great team effort by @RamiJamra @platzer_k @RTJauss @Ilona_Krey @lemke_johannes @tomaeusTo et al. 💪 zenodo.org/records/115618…

@zevkronenberg Well done👏👏👏 Can you share some insights?

First solve for team outer space, a 3kb denovo deletion #undiagnosedhackathon2024

The Chromatones on a post conference run this morning in Berlin. Thanks for bringing your energy to the dance floor the other night #ESHG2024 @CelineLewis23

great team & fun colleagues doing stuff like this jhoonline.biomedcentral.com/articles/10.11…

open position @MGZMuenchen 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