Ulrika Liljedahl

upSPLAT reduces library preparation costs by 10-fold through early barcoding and single-stranded ligation, enabling cost-effective, high-plex sequencing across diverse DNA inputs.

The paper presents whole-genome and whole-exome sequencing datasets from a multi-center, cross-platform study to benchmark NGS technologies and bioinformatics pipelines in cancer genomics.

The paper establishes reference samples with high-coverage whole-genome sequencing to create truth sets for somatic mutation and germline variant detection using NGS technologies.

This study evaluates reproducibility and accuracy of cancer mutation detection using whole-genome and whole-exome sequencing across multiple sequencing centers and bioinformatics pipelines.

The paper evaluates epigenetic methods using reference materials, finding high concordance between assays and differences in performance across platforms.

The paper assesses WGBS data quality on HiSeq X, HiSeq 2500, and NovaSeq systems, finding improved quality after software upgrades.

This study identifies de novo mutations and rare variant burdens in SLE candidate genes, supporting their role in disease pathogenesis.

SweGen provides a high-quality whole-genome map of genetic variation in the Swedish population, useful for clinical genetics and association studies.