Author

Caroline M. Junker Mentzel

Statens Serum InstitutORCID 0000-0003-4688-7367Unclaimed ORCID profile · follow to get notified of new preprints

Biology Disciplines

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Genetic & Genomic Medicine· 1

Signature Assays, Organisms & Methods

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

Frequent Co-Authors

Alberte Aspaas LundquistiD· 1 shared Allan Meldgaard LundiD· 1 shared Anna ByrjalseniD· 1 shared Christian ErikstrupiD· 1 shared Christian M. HageniD· 1 shared Erik Soerensen· 1 shared Henrik HjalgrimiD· 1 shared J Tfelt-Hansen· 1 shared

Activity by Year

2026-2026 · peak 1/yr

Co-Author Collaboration Network

10 top collaborators · 45 mutual co-author links

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1 shared paperGenetic & Genomic Medicine

Alberte Aspaas LundquistORCID

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1 paper

Recent·Most cited

Low-cost rare variant detection for population scale genetic screening

Mads Cort Nielsen, Caroline M. Junker Mentzel, Ulrik Kristoffer Stoltze, Christian M. Hagen, Marie Bækvad-Hansen, Anna Byrjalsen, Lone Sunde, Alberte Aspaas Lundquist, Allan Meldgaard Lund, J Tfelt-Hansen, Tania Nicole Masmas, Erik Soerensen, Ole Birger Pedersen, Christian Erikstrup, Sisse Rye Ostrowski, , 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.

medRxiv · Jul 10, 2026 · PreprintGenetic & Genomic Medicine