Mojca Stražišar

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

This study uses long-read sequencing and optical genome mapping to fully characterize unresolved structural variants, achieving single-basepair resolution and improving diagnostic yield.

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 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.

The paper introduces methplotlib, a tool for visualizing and analyzing modified nucleotides from nanopore sequencing data, along with scripts for statistical analysis.

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

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

This study determines the optimal read length for structural variant discovery and haplotyping using long-read sequencing in human genomes.