Article
Combinatorial batching of DNA for ultralow-cost detection of pathogenic variants.
Genome medicine - 14 Mar 2023
Stoltze Ulrik Kristoffer, Hagen Christian Munch, van Overeem Hansen Thomas, Byrjalsen Anna, Gerdes Anne-Marie, Yakimov Victor, Rasmussen Simon, Bækvad-Hansen Marie, Hougaard David Michael, Schmiegelow Kjeld, Hjalgrim Henrik, Wadt Karin, Bybjerg-Grauholm Jonas
Abstract excerpt
BACKGROUND: Next-generation sequencing (NGS) based population screening holds great promise for disease prevention and earlier diagnosis, but the costs associated with screening millions of humans remain prohibitive. New methods for population genetic testing that lower the costs of NGS without compromising diagnostic power are needed. METHODS: We developed double batched sequencing where DNA samples are...
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