Long-read whole-genome sequencing-based concurrent haplotyping and aneuploidy profiling of single cells
Zhao Yan, Olga Tšuiko, Tatjana Jatsenko…·Joris Robert Vermeesch
This study demonstrates that long-read whole-genome sequencing can accurately haplotype and detect aneuploidies in single cells, offering an alternative to current preimplantation genetic testing methods.