Liana Fasching

Interneuron loss and microglia activation by transcriptome analyses in the basal ganglia of Tourette syndrome

This study uses single-cell transcriptomics to show reduced interneurons and microglia activation in TS basal ganglia, linking gene expression changes to impaired striatal function.

All2: A tool for selecting mosaic mutations from comprehensive multi-cell comparisons

All2 filters mosaic mutations from multi-cell comparisons by classifying variants as germline, mosaic, or false positive, improving sensitivity and reducing false positives in whole genome and exome analysis.

Comprehensive identification of somatic nucleotide variants in human brain tissue

This study identifies somatic SNVs in non-cancerous human brain tissues and establishes best practices for detecting low-frequency variants.

Early developmental asymmetries in cell lineage trees in living individuals

The paper tracks cell lineages in humans using post-zygotic mutations and finds lineage imbalance and correlations with developmental axes.

Machine learning reveals bilateral distribution of somatic L1 insertions in human neurons and glia

The paper introduces a machine learning method to detect somatic L1 insertions in human brain tissue, revealing their widespread distribution in neurons and glia and potential role in neuropsychiatric diseases.