Author
University of CopenhagenORCID 0009-0009-4377-013XUnclaimed ORCID profile · follow to get notified of new preprints
Mutual co-authors in cluster
3 papers
Recent·Most cited
Mads Cort Nielsen, Caroline M. Junker Mentzel, Ulrik Kristoffer Stoltze…·Simon Rasmussen
This paper introduces DoBSeq, a low-cost framework for detecting rare variants in population-scale genetic screening, achieving 95% variant detection and recovering all clinically relevant pathogenic variants in ACMG genes.
Mads Cort Nielsen, Christian M. Hagen, Ulrik Kristoffer Stoltze…·Simon Rasmussen
DoBSeqWF is a pipeline for analyzing pooled sequencing data to detect rare genetic variants, improving sensitivity with machine learning filters.
Sara Pita, Pernille Neve Myers, Joachim Johansen…·Henrik Bjørn Nielsen
CHAMP provides accurate taxonomic profiling of prokaryotes, eukaryotes, and viruses in the human microbiome, outperforming existing tools in recall, F1 score, and false positive reduction.