Selected Publications (Google Scholar profile, ORCID profile )

DOI:10.1038/s41586-025-09290-7

1000 Genomes Structural Variant Calling: Structural variation in 1,019 diverse humans based on long-read sequencing.

DOI:10.1038/nature15394

1000 Genomes Phase 3: A catalogue of human genetic structural variation.

Cancer Genomics Publications

DOI:10.1016/j.xgen.2023.100281

Long-read sequencing of a cancer genome: Long-read sequencing of diagnosis and post-therapy medulloblastoma reveals complex rearrangement patterns and epigenetic signatures.

DOI:10.1016/j.cell.2011.12.013

Chromothripsis in Medulloblastoma: Genome sequencing of pediatric medulloblastoma samples to understand complex, somatic DNA rearrangements.

DOI:10.3324/haematol.2015.129692

Relapses of T-cell acute lymphoblastic leukemia: Pediatric T-cell acute lymphoblastic leukemia evolves into relapse by clonal selection and acquisition of mutations.

Web Applications for Molecular Biologists

DOI:10.1186/s12864-020-6635-8

www.gear-genomics.com: Genome Analysis Server with interactive and efficient web applications for molecular biologists.

Computational Biology Methods

DOI:10.1093/bioinformatics/bts378

Delly: Structural variant discovery by integrated paired-end and split-read analysis.

DOI:10.1093/bioinformatics/bty1007

Alfred: BAM alignment statistics, feature counting and feature annotation.

DOI:10.1186/s12864-020-6635-8

Tracy: Basecalling, alignment and deconvolution of Sanger Chromatogram trace files.

DOI:10.1016/j.xgen.2023.100281

Wally: Visualization of aligned sequencing reads and contigs.

DOI:10.1093/bioinformatics/btz719

Visor: Variant simulator for short, long and linked reads