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