Are you passionate about neurodevelopment and brain diseases? Would you like to work in a highly dynamic environment at the interface of fundamental science and applied human clinical genetics, direct...

Fasham and colleagues report a palindrome-mediated genomic disorder causing a recognizable, severe phenotype marked by early-onset progressive ataxia, cognitive decline, and cerebellar atrophy. Microa...

Onderzoekers van Erasmus MC gebruiken kunstmatige intelligentie om verborgen schakelaars te zoeken in het DNA. Die aanpak kan mensen met een zeldzame genetische aandoening alsnog een diagnose bezorgen...

BRAIN-MAGNET, a convolutional neural network trained on 148,198 functionally tested non-coding regulatory elements, predicts enhancer activity directly from DNA sequence and identifies nucleotides essential for function. This functional genomic atlas and BRAIN-MAGNET prioritize disease-relevant non-coding variants, advancing functional interpretation of the regulatory genome in neurodevelopment and neurological disease.

Enhancers are key gene regulatory elements that ensure the precise spatiotemporal execution of developmental gene expression programmes. However recent findings indicate that approaches to identify en...