Genetic & Genomic MedicineScientific ReportsPeer-reviewed
Full characterization of unresolved structural variation through long-read sequencing and optical genome mapping
Griet De Clercq, Lies Vantomme, Barbara Dewaele…·Björn Menten
This study uses long-read sequencing and optical genome mapping to fully characterize unresolved structural variants, achieving single-basepair resolution and improving diagnostic yield.
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