Denny Popp
@DennyPopp
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Genomics & Genetics | Bioinformatics & Computational Biology | #NGS #Nanopore | Views and typos are my own.
Joined April 2015
Excited to attend #eshg2025 in vibrant Milan! Poster is mounted, 1st session kicked off with #longreads. what else to do on a sunny Saturday morning 😉
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RT @platzer_k: Happy to finally share our latest Mendelian gene discovery work on #KDM2A where de novo variants cause a syndromic neurodeve….
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RT @hug_leipzig: Detecting Monogenic #Obesity: A Systematic Exome-Wide Workup of Over 500 Individuals. This study aims to assess the diagno….
medrxiv.org
Background/Objectives Obesity poses a major public health concern. Although BMI heritability is estimated at 40–80%, genetic diagnostics remain challenging. This study aims to ( i ) assess the...
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We solved a puzzling case of Incontinentia Pigmenti by phasing a pathogenic variant in IKBKG to the preferentially inactivated X chromosome and at the same time discriminating gene from pseudogene using #Nanopore long reads.
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Quite excited to share our latest publication: Incorporating Nanopore Sequencing Into a Diverse Diagnostic Toolkit for Incontinentia Pigmenti. #HumanGenetics #IncontinentiaPigmenti #XInactivation #LongReads #Nanopore
onlinelibrary.wiley.com
Incontinentia pigmenti (IP) is a rare hereditary disorder affecting 1.2 in 100,000 live births, predominantly females. Genetic analysis of IP is complicated by a homologous pseudogene, making...
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RT @strnr: 🦋 for Science. Starter packs for genomics, bioinformatics, #Rstats, Nextflow. Moderation lists. Feeds. Let's rebuild the old sci….
blog.stephenturner.us
Bluesky starter packs for genomics, bioinformatics, R, and Nextflow
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RT @hug_leipzig: 🆕📰 Thiamine-Responsive Megaloblastic Anemia (#TRMA) #Syndrome mimicking myelodysplastic neoplasm(#MDS): Next-generation-se….
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RT @ChristelDepienn: Thrilled to share a new preprint on the role of RNU4-2 and RNU5B-1 variants in neurodevelopmental disorders, now onlin….
medrxiv.org
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...
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RT @arianna_tucci: #RepeatExpansionDisorders are up to three times more common than current estimates. Underdiagnosis or reduced penetrance….
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RT @izzy_schu: Now available: the @hug_leipzig altAFplotter for the detection of uniparental disomies from NGS data. Enjoy using it!.https….
bmcbioinformatics.biomedcentral.com
Background The detection of uniparental disomies (the inheritance of both chromosome homologues from a single parent, UPDs) is not part of most standard or commercial NGS-pipelines in human genetics...
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RT @ahoischen: And one other manuscript went online recently - full protocol for “Optical Genome Mapping for Applications in Repeat Expansi….
currentprotocols.onlinelibrary.wiley.com
Short tandem repeat (STR) expansions are associated with more than 60 genetic disorders. The size and stability of these expansions correlate with the severity and age of onset of the disease....
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RT @nickywhiffin: So excited that our paper “De novo variants in the RNU4-2 snRNA cause a frequent neurodevelopmental syndrome” is out toda….
nature.com
Nature - The non-coding RNA RNU4-2, which is highly expressed in the developing human brain, is identified as a syndromic neurodevelopmental disorder gene, and, using RNA sequencing, 5′...
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RT @LaraUrban42: Led by @harika_urel @Health_talents @TU_Muenchen, we @helmholtz_ai @uzh_vetsuisse @fz_juelich present first evidence that….
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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
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.
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RT @AllanBayat: Today is #KBG syndrome awareness day; a common neurodevelopmental disorder with around 1000 affected people 🌎 ‼️. Last chan….
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RT @AnneOtation: Excited to share our work on the diagnostic power of genome sequencing when directly assessing cases with exome data - 8%….
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RT @tomaeusTo: open position @MGZMuenchen. we are looking for PhD student to join our research team for a project focused on advancing the….
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