Version 1
: Received: 4 January 2024 / Approved: 4 January 2024 / Online: 4 January 2024 (09:53:42 CET)
How to cite:
Mariya, T.; Shichiri, Y.; Murase, Y.; Inagaki, H.; Kurahashi, H. Application and Prospects of Long Read Sequencers for Preimplantation Genetic Testing. Preprints2024, 2024010355. https://doi.org/10.20944/preprints202401.0355.v1
Mariya, T.; Shichiri, Y.; Murase, Y.; Inagaki, H.; Kurahashi, H. Application and Prospects of Long Read Sequencers for Preimplantation Genetic Testing. Preprints 2024, 2024010355. https://doi.org/10.20944/preprints202401.0355.v1
Mariya, T.; Shichiri, Y.; Murase, Y.; Inagaki, H.; Kurahashi, H. Application and Prospects of Long Read Sequencers for Preimplantation Genetic Testing. Preprints2024, 2024010355. https://doi.org/10.20944/preprints202401.0355.v1
APA Style
Mariya, T., Shichiri, Y., Murase, Y., Inagaki, H., & Kurahashi, H. (2024). Application and Prospects of Long Read Sequencers for Preimplantation Genetic Testing. Preprints. https://doi.org/10.20944/preprints202401.0355.v1
Chicago/Turabian Style
Mariya, T., Hidehito Inagaki and Hiroki Kurahashi. 2024 "Application and Prospects of Long Read Sequencers for Preimplantation Genetic Testing" Preprints. https://doi.org/10.20944/preprints202401.0355.v1
Abstract
Long read sequencers, known for their effectiveness in detecting genomic structural variations (SV), are becoming a standard in comprehensive genetic analysis. In preimplantation genetic testing (PGT) for SV carriers, information on breakpoint junctions is required for the determination of carrier status in embryo selection. These sequencers are employed for challenging cases involving SVs that are difficult to analyze with conventional cytogenetical methods or detailed junctions of chromosomal translocations, providing valuable insights. They also play a crucial role in acquiring simultaneous information on surrounding single-nucleotide polymorphisms (SNPs) around causative variants in PGT. Despite their advantages, challenges related to sequencing accuracy and testing costs exist. Thus, understanding long read sequencers’ characteristics is essential for their effective utilization. This review summarizes the advanced applications of long read sequencers in preclinical workups and their integration into PGT. It also highlights in-house clinical cases, showing the implementation of long-read sequencing and discussing prospects in the field.
Keywords
long read sequencer; sequel sequencer; nanopore sequencer; preimplantation genetic testing
Subject
Biology and Life Sciences, Life Sciences
Copyright:
This is an open access article distributed under the Creative Commons Attribution License which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited.
