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Haplotype analysis in Preimplantation Genetic Testing for Special Monogenic Diseases Cases based on Nanopore Sequencing

2023-09-28

Abstract excerpt

<h4>Background: </h4> Most monogenic diseases resulting from pathogenic variants lack effective treatments. Genetic counseling and preimplantation genetic testing for monogenic/ single-gene diseases (PGT-M) are significant and effective methods to block the inheritance of pathogenic variants. However, conventional PGT-M, based on next-generation sequencing (NGS), has limitations to analyze haplotype linkage when d...

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Literature Corpus work
62f30f06-cf26-52b3-a7ab-4bce261ef7f0
DOI
10.21203/rs.3.rs-3275410/v1
Open publication

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