Svenn D’Hert

Medically relevant tandem repeats in nanopore sequencing of control cohorts

The paper introduces PathSTR, a tool for analyzing tandem repeats using long-read sequencing, and demonstrates its application in a Myotonic Dystrophy type 1 case.

Accurate characterization of expanded tandem repeat length and sequence through whole genome long-read sequencing on PromethION.

This paper develops a method to accurately characterize expanded tandem repeats using long-read sequencing on PromethION, outperforming traditional methods and enabling clinical applications.

Structural variants identified by Oxford Nanopore PromethION sequencing of the human genome

The paper benchmarks structural variant calling tools using Oxford Nanopore PromethION sequencing of the human genome, finding Minimap2 and Sniffles to be the most accurate and efficient.

opentsv prevents the corruption of scientific data byExcel

Opentsv prevents Excel from corrupting scientific data by allowing safe opening of delimited data files without name conversions.

NanoPack: visualizing and processing long read sequencing data

NanoPack bundles Python3 tools (command line, GUI, web service) for QC plotting, summary statistics, read filtering and contaminant removal of Oxford Nanopore and PacBio long reads.