Valtteri Wirta

This paper evaluates the clinical use of long-read genome sequencing in Sweden, showing it provides molecular diagnoses and reduces diagnostic costs.

This paper provides consensus recommendations for standardizing bioinformatics practices in clinical whole genome sequencing to ensure accuracy, reproducibility, and comparability of results.

The paper describes an NGS method for preparing enriched DNA libraries from various sample types and qualities.

Sarek provides a portable and reproducible workflow for analyzing germline and somatic variants from whole-genome sequencing data.