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Using affected embryos to establish linkage phase in preimplantation genetic testing for thalassemia

30 Apr 2022

Abstract excerpt

BACKGROUND: This study aimed to evaluate the ability of next-generation sequencing (NGS) to conduct preimplantation genetic testing (PGT) for thalassemia using affected embryos. METHODS: This study included data from 36 couples who underwent PGT for thalassemia without probands and relative pedigrees. NGS results were compared with prenatal diagnosis results. RESULTS: Thirty-six couples (29 α-thalassemia and 7...

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PMID: 35490243
DOI: 10.1186/s12958-022-00948-9

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