A study published in BMCGenomics demonstrates the feasibility of nanopore sequencing to accurately detect translocation breakpoints in balanced reciprocal translocation carriers.
]. The MicroSeq-PGD method combines the chromosome microdissection technique with NGS followed by PGT to characterize the translocation breakpoints and flanking SNP haplotypes, which enables the resolution of non-carrier embryos from BRT carriers. However, this method fails to detect translocation breakpoints in repeated or GC-bias regions. Moreover, it requires highly specialized equipment and advanced experimental skills. These limitations make it difficult to widely apply the PGT-SR cycle.
Nanopore sequencing is a single-molecule long-read sequencing technology with several advantages. First, it provides long read lengths, which greatly increases the chance of precisely identifying translocation breakpoints. Second, it can address more complex translocations and is especially helpful in resolving breakpoints located in repetitive and GC-bias regions [].
Translocation breakpoint identification is a challenge in the PGT-SR cycle, and several methods have been established to map breakpoints to kilobase levels. However, these methods are usually time-consuming and difficult to widely use in the population. In this study, we observed that MaReCs identified translocation breakpoints at the kilobase level . In contrast, we mapped translocation breakpoints to a higher resolution, that is, at the single-base level, using nanopore sequencing.
However, nanopore sequencing has certain limitations. One such limitation is that it is not possible to identify the translocation breakpoints of Robertsonian translocation carriers or those located in the gap regions of the human genome. In addition, high-molecular-weight genomic DNA is essential for nanopore sequencing to yield long reads, but most PGT centers employ methods that tend to be more well-suited for short-read sequencing.
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