Klaus Lehnert

ICARUS v3 efficiently analyzes large-scale single cell RNA-seq datasets with over 1 million cells using geometric cell sketching and downstream analysis tools.

The paper identifies transcriptional upregulation of glutamate receptors and downregulation of oxidative phosphorylation in an ovine HD model before neuronal loss and motor symptoms.

This study compares single cell RNA-seq data from frozen tissue cells and nuclei, finding nuclei provide higher quality data with more gene and UMI counts and better clustering resolution.

ICARUS v2.0 provides a web-based tool for analyzing single cell RNA-seq data with features for gene network analysis, trajectory inference, cell communication, and GWAS integration.

The paper develops a multiplexing assay for MinION sequencing to identify genetic variants in small genomic regions, achieving accurate results for most targets despite sequencing biases.

RBV prioritises and validates copy number variations using read balance from genome or exome sequencing data.

This study evaluates CNV detection tools for deletions in WGS data, finding Breakdancer and Delly perform best with high sensitivity and moderate FDR.

The paper identifies a high rate of rare copy number variants in women with earthquake-induced stress cardiomyopathy, suggesting potential genetic predisposition.