Author

Marie Bækvad-Hansen

Statens Serum Institut

Listed by name: these papers carry no ORCID for this author, so different people with the same name may be mixed together.

Biology Disciplines

Click to filter author papers

Genetic & Genomic Medicine· 2

Signature Assays, Organisms & Methods

Click to filter · or open tag

Approach:statistical model· 2 Research Focus:variant calling· 2 Assay:whole-genome sequencing· 2 Organism:human· 1

Frequent Co-Authors

Anna ByrjalseniD· 2 shared Christian M. HageniD· 2 shared Henrik HjalgrimiD· 2 shared Jonas Bybjerg‐GrauholmiD· 2 shared Karin WadtiD· 2 shared Kjeld SchmiegelowiD· 2 shared Mads Cort NielseniD· 2 shared Mette NyegaardiD· 2 shared

Activity by Year

2026-2026 · peak 2/yr

Co-Author Collaboration Network

10 top collaborators · 45 mutual co-author links

Click any collaborator node to inspect or filter shared papers

Focal author (center)Selected co-authorORCID co-authorUnlinked name

Curved chords = mutual co-authorship

2 shared papersGenetic & Genomic Medicine

Anna ByrjalsenORCID

Mutual co-authors in cluster

Author profile →

2 papers

Recent·Most cited

Genetic & Genomic MedicinemedRxivPreprintJul 10, 2026

Low-cost rare variant detection for population scale genetic screening

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.

DOI 10.64898/2026.07.07.26357001

humanwhole-genome sequencing

𝕏 PostBluesky

Genetic & Genomic MedicineNAR Genomics and BioinformaticsPeer-reviewedJan 6, 2026

DoBSeqWF: A framework for sensitive detection of individual genetic variation in pooled sequencing data

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.

DOI 10.1093/nargab/lqag021

whole-genome sequencingstatistical model

𝕏 PostBluesky