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Comprehensive preimplantation genetic testing by massively parallel sequencing

19 Sept 2020

Abstract excerpt

STUDY QUESTION: Can whole genome sequencing (WGS) offer a relatively cost-effective approach for embryonic genome-wide haplotyping and preimplantation genetic testing (PGT) for monogenic disorders (PGT-M), aneuploidy (PGT-A) and structural rearrangements (PGT-SR)? SUMMARY ANSWER: Reliable genome-wide haplotyping, PGT-M, PGT-A and PGT-SR could be performed by WGS with 10× depth of parental and 4× depth of...

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PMID: 33306794
DOI: 10.1093/humrep/deaa269

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