Genetic & Genomic MedicineNature CommunicationsPeer-reviewed
Clinical-grade whole genome sequencing-based haplarithmisis enables all forms of preimplantation genetic testing
A Janssen, Rebekka M. Koeck, Rick Essers…·Masoud Zamani Esteki
This paper introduces a whole genome sequencing-based haplarithmisis method for preimplantation genetic testing, improving coverage, reducing artifacts, and enabling new applications like trio-based aneuploidy detection.
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