Tim De Pooter

A 5' UTR CCG expansion in TBC1D7 causes oculopharyngodistal myopathy

The paper identifies a CCG expansion in TBC1D7 as a cause of oculopharyngodistal myopathy, showing variable repeat structure and epigenetic regulation.

Methylmap: visualization of modified nucleotides for large cohort sizes

Methylmap visualizes modified nucleotide frequencies across positions for large sample cohorts using standardized BAM/CRAM files.

The European Reference Genome Atlas: piloting a decentralised approach to equitable biodiversity genomics

The paper describes the European Reference Genome Atlas (ERGA) pilot project, which tests a decentralized model for producing high-quality reference genomes across 98 European species.

Scywalker: scalable end-to-end data analysis workflow for nanopore single-cell transcriptome sequencing

Scywalker provides a scalable analysis pipeline for nanopore single-cell transcriptome data, showing good correlation with short-read analyses and enabling isoform-level cell-type-specific expression identification.

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.