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.
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.
The molecular landscape of ETMR at diagnosis and relapse: ETMR tumours in which the proposed driver C19MC2 was not amplified frequently had germline mutations in DICER1 or other microRNA-related aberrations.
Pan-Cancer Analysis: Germline determinants of the somatic mutation landscape in 2,642 cancer genomes.
Severe combined immunodeficiency: CARD11 inactivation leads to severe combined immunodeficiency.
rdxon: Rapid method to filter FASTQ files for reads containing k-mers absent in the entire 1000 Genomes sequencing data. Suitable to discover disease-causing mutations in rare disorders independent of any reference genome.
Web Applications for Molecular Biologists
www.gear-genomics.com: Genome Analysis Server with interactive and efficient web applications for molecular biologists.
Computational Biology Methods
Delly: Structural variant discovery by integrated paired-end and split-read analysis.
Alfred: BAM alignment statistics, feature counting and feature annotation.
Tracy: Basecalling, alignment and deconvolution of Sanger Chromatogram trace files.
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.