Article
Preclinical workup using long-read amplicon sequencing provides families with de novo pathogenic variants access to universal preimplantation genetic testing.
Human reproduction (Oxford, England) - 1 Mar 2023
Tsuiko Olga, El Ayeb Yasmine, Jatsenko Tatjana, Allemeersch Joke, Melotte Cindy, Ding Jia, Debrock Sophie, Peeraer Karen, Vanhie Arne, De Leener Anne, Pirard Céline, Kluyskens Candice, Denayer Ellen, Legius Eric, Vermeesch Joris Robert, Brems Hilde, Dimitriadou Eftychia
Abstract excerpt
STUDY QUESTION: Can long-read amplicon sequencing be beneficial for preclinical preimplantation genetic testing (PGT) workup in couples with a de novo pathogenic variant in one of the prospective parents? SUMMARY ANSWER: Long-read amplicon sequencing represents a simple, rapid and cost-effective preclinical PGT workup strategy that provides couples with de novo pathogenic variants access to universal genome-wide...
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