Genetic & Genomic MedicineJournal of Molecular DiagnosticsPeer-reviewed
Concordance of whole-genome long-read sequencing with standard clinical testing for Prader-Willi and Angelman syndromes
Cate Randall Paschal, Miranda P.G. Zalusky, Anita E. Beck…·Danny E. Miller
This study evaluates whole-genome long-read sequencing for diagnosing Prader-Willi and Angelman syndromes, showing high accuracy in detecting genetic variants and methylation differences.
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