Genetic & Genomic MedicineGenome MedicinePeer-reviewed
Evaluating Genome Sequencing Strategies: Trio, Singleton, and Standard Testing in Rare Disease Diagnosis
Daniel Kaschta, Christina Post, Franziska Gaass…·Malte Spielmann
This study compares trio, singleton, and standard genome sequencing in rare disease diagnosis, finding trio sequencing has the highest diagnostic yield.
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