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Improved clinical utility of preimplantation genetic testing through the integration of ploidy and common pathogenic microdeletions analyses

9 Feb 2023

Abstract excerpt

STUDY QUESTION: Can chromosomal abnormalities beyond copy-number aneuploidies (i.e. ploidy level and microdeletions (MDs)) be detected using a preimplantation genetic testing (PGT) platform? SUMMARY ANSWER: The proposed integrated approach accurately assesses ploidy level and the most common pathogenic microdeletions causative of genomic disorders, expanding the clinical utility of PGT. WHAT IS KNOWN ALREADY:...

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PMID: 36824049
DOI: 10.1093/humrep/dead033

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