Evaluating Genome Sequencing Strategies: Trio, Singleton, and Standard Testing in Rare Disease Diagnosis
Daniel Kaschta, Christina Post, Franziska Gaass, Milad Al-Tawil, Vincent Arriens, Saranya Balachandran, Tobias Bäumer, Valerie Berge, Friederike Birgel, Andreas Dalski, Maike Dittmar, André Franke, Sören Franzenburg, Janina Fuß, Bettina Gehring, , Malte Spielmann
This study compares trio, singleton, and standard genome sequencing in rare disease diagnosis, finding trio sequencing has the highest diagnostic yield.
Genome Medicine · Sep 17, 2025Peer-reviewedGenetic & Genomic Medicine