Author

Allan Meldgaard Lund

RigshospitaletORCID 0000-0002-6091-7879Unclaimed ORCID profile · follow to get notified of new preprints

Biology Disciplines

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Genetic & Genomic Medicine· 2

Signature Assays, Organisms & Methods

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

Frequent Co-Authors

Alberte Aspaas LundquistiD· 1 shared Ali S. FatemiiD· 1 shared Anna ByrjalseniD· 1 shared Caroline M. Junker MentzeliD· 1 shared Cecilie S. VidebækiD· 1 shared Christian ErikstrupiD· 1 shared Christian M. HageniD· 1 shared Danielle H.J. KimiD· 1 shared

Activity by Year

2026-2026 · peak 2/yr

Co-Author Collaboration Network

10 top collaborators · 20 mutual co-author links

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1 shared paperGenetic & Genomic Medicine

Alberte Aspaas LundquistORCID

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2 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

Disease Outcomes in Boys with ABCD1 Variants Identified by Newborn Screening for X-ALD

Cecilie S. Videbæk, Danielle H.J. Kim, Hannah S. Hart, Robert E. Thompson, Razina Aziz‐Bose, Lachelle Purnell-Savoy, Sonum Bharill, Ezzat Hashemi, Joseph Orsini, Elisa Seeger, Miranda McAuliffe, Isha N. Srivastava, Jennifer MacLean, Sejal Shah, Ali S. Fatemi, , Keith P. van Haren

The paper evaluates disease outcomes in boys with ABCD1 variants detected via newborn screening for ALD, finding that VUS variants are associated with lower rates of adrenal insufficiency and lower C26:0-LPC levels compared to pathogenic variants.

medRxiv · Jul 2, 2026 · PreprintGenetic & Genomic Medicine