Impact and characterization of serial structural variations across humans and great apes
Wolfram Höps, Tobias Rausch, Michael Jendrusch, Hufsah Ashraf, Peter A. Audano, Ola Austine, Anna O. Basile, Christine R. Beck, Marc Jan Bonder, Marta Byrska-Bishop, Mark Chaisson, Zechen Chong, André Corvelo, Scott E. Devine, Peter Ebert, , 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.
Nature Communications · Sep 12, 2024Peer-reviewedBioinformatics