Identification of cryptic breakpoints through single-tube long fragment read whole genome sequencing based on preimplantation genetic testing

Abstract excerpt

This study utilized single-tube long fragment read whole genome sequencing (stLFR WGS) to identify cryptic chromosomally balanced translocations in preimplantation genetic testing (PGT), aiming to improve outcomes for couples experiencing recurrent pregnancy loss (RPL). G-banded karyotyping initially revealed normal results for Family 1 and a reciprocal translocation for Family 2. However, PGT's low-coverage WGS...

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• Share to Chromosomal and Genetic Variations
• Share to Genomic variations and chromosomal abnormalities
• Share to Prenatal Screening and Diagnostics