Topic: Next-generation sequencing

Develop a practical foundation for handling and interpreting next-generation sequencing data. This workshop-style winter school begins with Linux, cloud computing and sequence-quality assessment, then uses containers for reproducible analysis. Exercises cover short- and long-read genome assembly, assembly evaluation, annotation and visualisation, followed by phylogenetics, phylogenomics, RNA-seq processing and differential expression. Examples compare Illumina, Nanopore and PacBio data across biological systems and experimental designs. Live online, 8–12 February, 14:00–20:00 Europe/Berlin (C

Leukodystrophies are a group of genetically determined neurodegenerative disorders that predominantly affect the white matter. We aimed to study the clinical, radiological and genetic features of childhood-onset Leukodystrophies by in-house genetic testing using a targeted genetic panel. All children with a clinico-radiological suspicion of leukodystrophy were evaluated by an in-house Ion Torrent next-generation sequencing technology. A custom gene panel was designed with the most common causes of leukodystrophies in the given setting. In the first phase, fourteen children with suspected leuko

Extracellular vesicles (EVs) are membrane-enveloped nanoparticles released into the extracellular space by almost all cell types. They have been shown to spread α-synuclein (αSyn) – the main pathological hallmark of Parkinson´s disease (PD) – and miRNAs that can influence the expression of genes associated with PD progression. On this basis, they are becoming interesting as diagnostic biomarkers. So far, however, data from patients are heterogeneous and inconsistent. Therefore, we aim to use a cellular model that allows us to investigate the role of EVs in PD pathology on a homogeneous genetic