Wouter Steyaert
@SteyaertWouter
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PhD in Medical Sciences | Bioinformatician | Complex Genomic Regions | Rare Disease Research | Genome Sequencing & Computational Analysis
Joined October 2019
Huge thanks to my supervisors @gilissenc , @ahoischen & Han Brunner, and my colleagues at @GeneticNijmegen & @Solve_RD. Let’s keep pushing the boundaries of science together! 🚀
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🧪 Long-read sequencing – Diagnosed 12% of previously undiagnosed families!
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🔬 Chameleolyser – A method to detect genetic variants in complex genome regions. This led to 25 new diagnoses at Radboudumc. 🧬 Exome reanalysis – Identified disease-causing variants in 700+ families, bringing hope & answers. (2/n)
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🚀 Exciting news! I have successfully defended my PhD at @radboudumc ! 🎓 My thesis: "From Data to Diagnosis: Innovative Bioinformatics Strategies for Diagnosing Rare Genetic Diseases" focuses on improving rare disease diagnostics for 400M+ people worldwide. (1/n)
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It’s a privilege to announce Solve-RD’s latest manuscript based on years of work: “Genomic reanalysis of a pan-European rare-disease resource yields new diagnoses” https://t.co/fSU1h9TDoR A thread (1/n)
nature.com
Nature Medicine - This flagship study from the European Solve-Rare Diseases Consortium presents a diagnostic framework including bioinformatic analysis of clinical, pedigree and genomic data...
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I am proud and happy to present our latest Solve-RD research work at ASHG2024! Long-read sequencing in 114 undiagnosed rare disease families yields 13 novel genetic diagnoses. Poster 3076 at 2. 30 pm. @lydiasagath @gilissenc @ahoischen @Solve_RD #ASHG2024
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Very please with our latest preprint. Great work by the @Solve_RD long-read working group with the entire consortium. Huge effort driven by @SteyaertWouter and @lydiasagath and of course @gilissenc @LisenkaVissers all sequencing done at @GeneticNijmegen. https://t.co/GWRMK3RkG0
medrxiv.org
Solve-RD is a pan-European rare disease (RD) research program that aims to identify disease-causing genetic variants in previously undiagnosed RD families. We utilised 10-fold coverage HiFi long-read...
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Nice press release of our work led by @SteyaertWouter
Nieuwe Nijmeegse methode maakt verborgen genetische variaties zichtbaar. De informatie levert nu al nieuwe patiëntdiagnoses op en mogelijk worden zo ook nog onbekende ziektegenen ontdekt. Lees erover op onze website 👇 https://t.co/BStyQhPHDV
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New manuscript, based on huge effort by our PhD candidate @SteyaertWouter! He built a tool “Chameleolyzer” to better analyze homologous sequences from massive short-read exome data, validated by long-read sequencing.
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La búsqueda de nuevos materiales de construcción ecológicos nos abre una infinidad de alternativas algunas novedosas y otras reinventadas. Las bacterias un nuevo biomaterial para el revestimiento. #MAPGIC @vyepesp @CaminosUPV 📌@ACCIONA #Imnovation
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Very happy to have received an early career award at ESHG2023! A big thank you to @Solve_RD and my supervisors @gilissenc @ahoischen and Han Brunner!
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