NeuroscienceNeurology GeneticsPeer-reviewed
Cell type specificity of mosaic chromosome 1q gain resolved by snRNA-seq in a case of epilepsy with hyaline protoplasmic astrocytopathy
Kun Leng, Cathryn René Cadwell, Walter Patrick Devine…·Vaibhav Upadhyay
The paper uses snRNA-seq to analyze mosaic chromosome 1q gain in a case of epilepsy with hyaline protoplasmic astrocytopathy, finding cell-type-specific gene expression changes in neurons and astrocytes.