Pontus Höjer

The paper compares variant calling performance between Illumina NovaSeq X Plus and Element AVITI sequencing platforms using whole genome sequencing of human tumor cell lines, finding comparable results with minor differences in specific genomic contexts.

This study compares two WGA kits for single-cell genome analysis, finding that PTA/ResolveDNA outperforms MDA/REPLI-g in quality metrics and CNV detection.

This study connects cardiovascular risk variants to disease-related pathways using high-resolution genomic interaction maps in relevant cell types.