Jonas A. Sibbesen

The paper presents a draft human pangenome reference that improves variant discovery and structural variant detection compared to existing references.

This paper introduces a toolchain for haplotype-aware transcript analysis using spliced pangenome graphs, improving RNA-seq mapping accuracy and enabling haplotype-specific expression quantification without prior haplotype characterization.

The paper combines Oxford Nanopore and Illumina sequencing to analyze structural variation in soybean cultivars, showing that long-read data can be effectively used with short-read data for population-scale SV analysis.

The paper introduces Giraffe, a pangenome mapper that improves genotyping of SNVs, indels, and SVs in 5,202 human genomes using the vg toolkit.

The paper demonstrates that variation graphs using the vg toolkit improve structural variant genotyping compared to traditional methods and VCF-based catalogs.