Population Genomics


1000 Genomes Structural Variant Calling: A catalogue of human genetic structural variation.

Haplotype-resolved Stuctural Variant Calling: Multi-platform discovery of haplotype-resolved structural variation in human genomes.

Cancer Genomics


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


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


Activating STAT5B N642H mutations in T-cell acute lymphoblastic leukemia: The activating STAT5B N642H mutation is a common abnormality in pediatric T-cell acute lymphoblastic leukemia and confers a higher risk of relapse.

Pan-Cancer Analysis: Germline determinants of the somatic mutation landscape in 2,642 cancer genomes.

Rare Diseases


Severe combined immunodeficiency: CARD11 inactivation leads to severe combined immunodeficiency.

GEAR Genome Analysis Server

Gear: Genome Analysis Server with interactive and efficient web applications for molecular biologists.



SeqAn: An efficient, generic C++ library for sequence analysis.


Multiple Sequence Alignment: Segment-based multiple sequence alignment using SeqAn.


A full list of co-authored publications is available on Google Scholar.

Publications and peer review statistics are also available on publons.