Author

Anna Byrjalsen

RigshospitaletORCID 0000-0002-3470-5995Unclaimed ORCID profile · follow to get notified of new preprints

Biology Disciplines

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Signature Assays, Organisms & Methods

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Approach:statistical model· 3 Research Focus:variant calling· 3 Assay:whole-genome sequencing· 3 Organism:human· 2 Research Focus:gene regulatory network inference· 1

Frequent Co-Authors

Karin WadtiD· 3 shared Kjeld SchmiegelowiD· 3 shared Simon RasmusseniD· 3 shared Thomas van Overeem HanseniD· 3 shared Ulrik Kristoffer StoltzeiD· 3 shared Christian M. HageniD· 2 shared Henrik HjalgrimiD· 2 shared Jonas Bybjerg‐GrauholmiD· 2 shared

Activity by Year

2022-2026 · peak 2/yr

Co-Author Collaboration Network

10 top collaborators · 45 mutual co-author links

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3 shared papersGenetic & Genomic Medicine

Karin WadtORCID

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Author profile →

3 papers

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

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

Mads Cort Nielsen, Christian M. Hagen, Ulrik Kristoffer Stoltze, Thomas van Overeem Hansen, Mette Nyegaard, Henrik Hjalgrim, Marie Bækvad-Hansen, Anna Byrjalsen, Kjeld Schmiegelow, Karin Wadt, Jonas Bybjerg‐Grauholm, Simon Rasmussen

DoBSeqWF is a pipeline for analyzing pooled sequencing data to detect rare genetic variants, improving sensitivity with machine learning filters.

NAR Genomics and Bioinformatics · Jan 6, 2026Peer-reviewedGenetic & Genomic Medicine

Population-based whole-genome sequencing with constrained gene analysis identifies predisposing germline variants in children with central nervous system tumors

Ulrik Kristoffer Stoltze, Jon Foss-Skiftesvik, Thomas van Overeem Hansen, Anna Byrjalsen, Astrid Marie Sehested, David Scheie, Torben Stamm Mikkelsen, Simon Rasmussen, Mads Bak, Henrik Okkels, Michael Thude Callesen, Jane Skjøth‐Rasmussen, Anne‐Marie Gerdes, Kjeld Schmiegelow, René Mathiasen, Karin Wadt

This study identifies 10% of pediatric CNS tumors as being caused by rare germline variants in known cancer predisposition genes through whole-genome sequencing and evolutionary constraint analysis.

medRxiv · Mar 1, 2022 · PreprintGenetic & Genomic Medicine