Article
DoBSeqWF: a framework for sensitive detection of individual genetic variation in pooled sequencing data.
NAR genomics and bioinformatics - 1 Mar 2026
Cort Nielsen Mads, Hagen Christian Munch, Stoltze Ulrik Kristoffer, Hansen Thomas van Overeem, Nyegaard Mette, Hjalgrim Henrik, Bækvad-Hansen Marie, Byrjalsen Anna, Schmiegelow Kjeld, Wadt Karin, Bybjerg-Grauholm Jonas, Rasmussen Simon
Abstract excerpt
Population screening for rare genetic diseases has the potential to increase early diagnosis and treatment, but the high cost of next-generation sequencing limits widespread implementation. Double-batched sequencing (DoBSeq) is a cost-effective method that uses two-dimensional overlapping pool sequencing to enable individual-level rare variant detection. However, the resulting high-depth, complex data require a...
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