The formation and propagation of human Robertsonian chromosomes
Leonardo Gomes de Lima, Andrea Guarracino, Sergey Koren, Tamara Potapova, Sean McKinney, Arang Rhie, Steven J. Solar, Chris W. Seidel, Brandon L. Fagen, Brian P. Walenz, Gerard G. Bouffard, Shelise Y. Brooks, Michael Peterson, Kate Hall, Juyun Crawford, , Jennifer L. Gerton
This study assembles human Robertsonian chromosomes, identifies a common breakpoint and centromere epigenetic changes, and explores structural features enabling their formation.
Nature · Sep 24, 2025Peer-reviewedGenomics