Tobias Bartolomaeus retweeted
Our paper on how de novo variants in #KDM2A cause a syndromic neurodevelopmental disorder is finally out in @AJHGNews 👇 🎉
📣 New from @platzer_k & co!
📄De novo variants in KDM2A cause a syndromic neurodevelopmental disorder
cell.com/ajhg/fulltext/S0002…
Tobias Bartolomaeus retweeted
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-fortbi…
Tobias Bartolomaeus retweeted
The MorbidGenes panel: a monthly updated list of diagnostically relevant rare disease genes derived from diverse sources #RareDisease #Genetics link.springer.com/article/10…
Tobias Bartolomaeus retweeted
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.
Tobias Bartolomaeus retweeted
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
Tobias Bartolomaeus retweeted
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
Thrilled to share a new preprint on the role of RNU4-2 and RNU5B-1 variants in neurodevelopmental disorders, now online in MedRxiv. 1/12 🧵medrxiv.org/content/10.1101/…
Tobias Bartolomaeus retweeted
SpliceVarDB: A comprehensive database of experimentally validated human splicing variants #RareDisease #Genetics #splicing cell.com/ajhg/fulltext/S0002…
Tobias Bartolomaeus retweeted
@hentschelju @izzy_schu & Johanna Moch, Maximilian Radtke, Thomas Liehr, Thomas Eggermann, Christian Gilissen, Rolph Pfundt, Galuh Astuti 🤝
Tobias Bartolomaeus retweeted
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
Tobias Bartolomaeus retweeted
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!
Tobias Bartolomaeus retweeted
Figeno, my visualization tool for genomics🎨🧬, is now published in Bioinformatics! doi.org/10.1093/bioinformati…
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.
Tobias Bartolomaeus retweeted
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/11561821
Tobias Bartolomaeus retweeted
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 retweeted
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
Tobias Bartolomaeus retweeted
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 📊
Tobias Bartolomaeus retweeted
Anyone interested in applying for MSCA fellowships to join our team at @GeneticNijmegen @radboudumc - for most innovative genomics in rare disease research - attractive support options via us as host. Send DM or email if you qualify and are interested.
radboudumc.nl/en/research/ac…
Tobias Bartolomaeus retweeted
github.com/StephanHolgerD/Py…
Minimal example how to extract region of interest alignments from a BAM file hosted in a private S3 bucket
Tobias Bartolomaeus retweeted
In our @hug_leipzig JC today @ahtingsi follwed up #ESHG2023 w/ an overview on 5' UTRs: constraint, uORFs, oORFs, #MEF2C, variant classification etc. Great JC + awesome work by @nickywhiffin 👌 👇
nature.com/articles/s41467-0…
cell.com/ajhg/fulltext/S0002…
link.springer.com/article/10…
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Tobias Bartolomaeus retweeted
Decipher is back up, ahead of schedule ☺️
Tobias Bartolomaeus retweeted
Corporate Satellite pt. II #eshg2023: @RTJauss will talk about how the challenge of accelerating case review while increasing the diagnostic yield is tackled in a high-throughput diagnostic lab. This Sun, 2pm BST, room Carron or online: varvis.com/ESHG2023.html#sav…
#varvis #booth266
