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Preimplantation Genetic Testing for Cornelia de Lange Syndrome with Low-Level Maternal Gonadal Mosaicism using nanopore sequencing and digital PCR

2024-12-24

Abstract excerpt

<title>Abstract</title> <p><bold>Background</bold> Presently, to address the limited resolution at the single-cell level within the preimplantation genetic testing for aneuploidy (PGT-A) framework, our institution implemented a preimplantation genetic testing for monogenic disease (PGT-M) strategy based on haplotype linkage analysis for families with copy number variants (CNVs) < 1 Mb.<bold>Objective</bold> This...

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Literature Corpus work: 3f58869f-179f-5434-8034-444092898637
DOI: 10.21203/rs.3.rs-5668001/v1

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