Long-read whole-genome sequencing-based concurrent haplotyping and aneuploidy profiling of single cells
Zhao Yan, Olga Tšuiko, Tatjana Jatsenko, Greet Peeters, Erika L. Souche, Mathilde Geysens, Eftychia Dimitriadou, Arne Vanhie, Karen Peeraer, Sophie Debrock, Hilde Van Esch, 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.
Nucleic Acids Research · Mar 20, 2025Peer-reviewedGenomics