@tomaeusTo
Joined April 2015
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  • Followers101
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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/s41431-0…

Re-evaluation and re-analysis of 152 research exomes five years after the initial report reveals...

European Journal of Human Genetics - Re-evaluation and re-analysis of 152 research exomes five years after the initial report reveals clinically relevant changes in 18%

nature.com
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Konrad Platzer
@platzer_kJan 9
Our paper on how de novo variants in #KDM2A cause a syndromic neurodevelopmental disorder is finally out in @AJHGNews 👇 🎉
AJHG@AJHGNewsJan 2
📣 New from @platzer_k & co! 📄De novo variants in KDM2A cause a syndromic neurodevelopmental disorder cell.com/ajhg/fulltext/S0002…

De novo variants in KDM2A cause a syndromic neurodevelopmental disorder

De novo variants in KDM2A cause a syndromic neurodevelopmental disorder with a phenotypic spectrum of mild to severe developmental delay, feeding difficulties, short stature, microcephaly, and...

cell.com
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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…
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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?
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@thorburn_mito @WanheeYoon @EllardSian
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Francisco Martínez@FranMartinezGr28 Oct 2024
The MorbidGenes panel: a monthly updated list of diagnostically relevant rare disease genes derived from diverse sources #RareDisease #Genetics link.springer.com/article/10…

The MorbidGenes panel: a monthly updated list of diagnostically relevant rare disease genes derived...

Human Genetics - Purpose: With exome sequencing now standard, diagnostic labs are in need of a, in principle, to-the-day-accurate list of genes associated with rare diseases. Manual curation...

link.springer.com
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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.
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catharine.aquino@CatharineAquino22 Oct 2024
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
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Nicky Whiffin@nickywhiffin8 Oct 2024
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
Christel Depienne@ChristelDepienn8 Oct 2024
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/…

Dominant variants in major spliceosome U4 and U5 small nuclear RNA genes cause neurodevelopmental...

Variants in RNU4-2 , encoding the small nuclear RNA (snRNA) U4, were recently identified as a major cause of neurodevelopmental disorders (ReNU syndrome). Here, we investigated de novo variants in 50...

medrxiv.org
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Francisco Martínez@FranMartinezGr3 Sep 2024
SpliceVarDB: A comprehensive database of experimentally validated human splicing variants #RareDisease #Genetics #splicing cell.com/ajhg/fulltext/S0002…
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@hentschelju @izzy_schu & Johanna Moch, Maximilian Radtke, Thomas Liehr, Thomas Eggermann, Christian Gilissen, Rolph Pfundt, Galuh Astuti 🤝
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Anne O'Donnell-Luria@AnneOtation9 Jul 2024
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
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Morghan Lucas@MorghanLucas17 Jun 2024
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!
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Etienne Sollier@EtienneSollier11 Jun 2024
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.
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Denny Popp@DennyPopp11 Jun 2024
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

List of NDD candidate genes - Insitute of Human Genetics in Leipzig, Germany

This dataset is a list a NDD candidate genes which was created by the Institute of Human Genetics, University of Leipzig Medical Center in Leipzig, Germany on 10th of June 2024. 

zenodo.org
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A/Prof Danya Vears@DanyaVears5 Jun 2024
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
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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/stellenangeb… #liquidbiopsy #Bioinformatics #PrecisionOncology #ctDNA

Karriere - MGZ - Medizinisch Genetisch Zentrum

mgz-muenchen.de
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great team & fun colleagues doing stuff like this jhoonline.biomedcentral.com/…

Somatic copy number alteration and fragmentation analysis in circulating tumor DNA for cancer...

Journal of Hematology & Oncology - Analysis of circulating free DNA (cfDNA) is a promising tool for personalized management of colorectal cancer (CRC) patients. Untargeted cfDNA analysis using...

link.springer.com
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Tobias Bartolomaeus retweeted
Stephan Drukewitz@Stephan_HolgerD31 May 2024
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
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