GenomicsGenome biologyPeer-reviewed
Accurate characterization of expanded tandem repeat length and sequence through whole genome long-read sequencing on PromethION.
Arne De Roeck, Wouter De Coster, Liene Bossaerts…·Kristel Sleegers
This paper develops a method to accurately characterize expanded tandem repeats using long-read sequencing on PromethION, outperforming traditional methods and enabling clinical applications.
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