Birte Kehr

GGTyper genotypes complex structural variants from short-read sequencing data, achieving high accuracy across simulated and real genomes.

MoleMap provides a fast, alignment-free molecule mapping tool for long-read and linked-read sequencing data, outperforming existing methods in speed and memory usage.

PopIns2 detects non-reference sequence variants across large genome datasets using a colored de Bruijn graph approach, showing improved scalability and precision.

GAMIBHEAR reconstructs haplotypes from Genome Architecture Mapping data to enable allele-specific chromatin conformation analysis.

PopDel identifies medium-size deletions in tens of thousands of genomes with high accuracy and scalability.

The paper identifies recurrent de novo mutations in sibling pairs and estimates their recurrence probabilities based on various factors.

Graphtyper efficiently genotypes sequence variants in large populations using pangenome graphs, achieving high accuracy and scalability.

chopBAI reduces I/O bottlenecks by splitting BAM index files, enabling efficient analysis of large sequencing cohorts.