Tobias Bartolomaeus

[Tobias Bartolomaeus @tomaeusTo]

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. https://t.co/M5agElfssx

[Konrad Platzer @platzer_k]

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

[Institut für Humangenetik 🧬 | Uniklinik Leipzig @hug_leipzig]

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. 👋

https://t.co/AAjtnGR4dc

[Tobias Bartolomaeus @tomaeusTo]

@thorburn_mito @WanheeYoon @EllardSian

[Tobias Bartolomaeus @tomaeusTo]

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?

[Francisco Martínez @FranMartinezGr]

The MorbidGenes panel: a monthly updated list of diagnostically relevant rare disease genes derived from diverse sources #RareDisease #Genetics https://t.co/h3itoB8FZH

[The DECIPHER Project @deciphergenomic]

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.

[catharine.aquino @CatharineAquino]

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

[Nicky Whiffin @nickywhiffin]

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

[Francisco Martínez @FranMartinezGr]

SpliceVarDB: A comprehensive database of experimentally validated human splicing variants #RareDisease #Genetics #splicing https://t.co/yhGUe2HK0W

[Institut für Humangenetik 🧬 | Uniklinik Leipzig @hug_leipzig]

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

[Anne O'Donnell-Luria @AnneOtation]

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

[Morghan Lucas @MorghanLucas]

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!

[Etienne Sollier @EtienneSollier]

Figeno, my visualization tool for genomics🎨🧬, is now published in Bioinformatics! https://t.co/ln22SewiZ7
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.

[Denny Popp @DennyPopp]

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. 💪

https://t.co/9VzkhFnvkw

[Tobias Bartolomaeus @tomaeusTo]

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

[A/Prof Danya Vears @DanyaVears]

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

[Tobias Bartolomaeus @tomaeusTo]

great team & fun colleagues doing stuff like this

https://t.co/r7ZTQv2fWT

[Tobias Bartolomaeus @tomaeusTo]

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

https://t.co/BQA9Pj5QN0

#liquidbiopsy #Bioinformatics #PrecisionOncology #ctDNA