BioinformaticsNature CommunicationsPeer-reviewed
Impact and characterization of serial structural variations across humans and great apes
Wolfram Höps, Tobias Rausch, Michael Jendrusch…·Fritz J. Sedlazeck
The paper introduces NAHRwhals, a method to detect serial structural variations in long-read genomes, identifies 37 sSV loci in humans, and shows their relevance to disease.
12 citations