Article
Lessons learned from the exome sequencing of nine cases of infertility and the way forward.
Reproductive biomedicine online - 1 May 2026
Broojeni Jalal V, Elmahdy Mohamed, Mitchell Sacha, Rezaei Maryam, Saharan Ankur, Elhady Ghada, Safwat Sylvia, Bareke Eric, Abdelrazek Ibrahim, Xu Chengpeng, Li Lei, Buckett William, Ao Asangla, Miron Pierre, Majewski Jacek, Abdalla Ebtesam, Slim Rima
Abstract excerpt
RESEARCH QUESTION: How can the effectiveness of exome sequencing be improved for diagnosing infertility, and what are the key challenges and lessons learned from analysing nine unrelated cases? DESIGN: Nine unrelated infertility cases referred between 2019 and 2024 were analysed in this study. Exome sequencing was conducted on probands and other family members when needed. Sanger sequencing was used for...
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