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Application and Prospects of Long-Read Sequencers for Preimplantation Genetic Testing for Structural Rearrangements.

Methods in molecular biology (Clifton, N.J.) - 1 Jan 2025

Shichiri Yui, Mariya Tasuku, Murase Yuri, Inagaki Hidehito, Kurahashi Hiroki

Abstract excerpt

Long-read sequencers are known for their effectiveness in detecting genomic structural variations (SV) and are becoming a standard approach for comprehensive genetic analysis. In preimplantation genetic testing (PGT) for SV carriers, information on breakpoint junctions is required to determine the carrier status in embryo selection. Long-read sequencers are employed for SV cases that are difficult to analyze with...

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PMID: 40884648
DOI: 10.1007/978-1-0716-4750-9_14

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