Topic: genotype–phenotype relationships

Brain-restricted somatic variants can cause cortical malformations, developmental tumors and other focal epilepsies while escaping routine germline tests. This investigators workshop examines sensitive methods for detecting variants present in only a small fraction of cells. Sessions cover minimally invasive sampling, genomic assays, single-nucleus RNA sequencing and spatial analysis of brain tissue, then connect these approaches to genotype–phenotype relationships and mechanistic studies in human cells and mosaic mouse models. The aim is to improve diagnosis and identify more targeted therape

Sibylle Vonesch’s Laboratory for Genome Editing and System Genetics seeks a computational postdoctoral researcher for high-throughput studies of genetic variation. MAGESTIC links thousands of precisely engineered CRISPR variants to DNA barcodes, enabling measurement of genotype–phenotype relationships across large cell populations. The project examines how synonymous mutations influence gene expression and cellular function, combining genome editing with genomics and computational analysis. The advertised contract is full-time for two years, with a preferred start between February and May 2027