PhD in Medical Sciences | Bioinformatician | Complex Genomic Regions | Rare Disease Research | Genome Sequencing & Computational Analysis
Joined October 2019
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New preprint.
How common a variant is in the population is usually explained by selection, drift and demography.
We show that a substantial part of it is written in the sequence architecture of the genome itself.
Affected positions also show reduced LD and, at common frequencies, are depleted by 30 to 40% among reported GWAS associations.
For this fraction of human variation, allele frequency is encoded in sequence architecture rather than set by population-genetic processes alone.
🚀 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)
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! 🚀
Wouter Steyaert retweeted
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”
nature.com/articles/s41591-0…
A thread (1/n)
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
Wouter Steyaert retweeted
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.
medrxiv.org/cgi/content/shor…
Wouter Steyaert retweeted
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 👇
radboudumc.nl/nieuws/2023/ni…
Wouter Steyaert retweeted
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. nature.com/articles/s41467-0…
Wouter Steyaert retweeted
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 shar.es/aga3Oy
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!
