Clinical application of long-read nanopore sequencing in a preimplantation genetic testing pre-clinical workup to identify the junction for complex Xq chromosome rearrangement-related disease.
Tasuku MariyaYui ShichiriTakeshi SugimotoRie KawamuraSyunsuke MiyaiHidehito InagakiEiji SugiharaKeiko IkedaTsuyoshi BabaAki IshikawaMichiko AmmaeYoshiharu NakaokaTsuyoshi SaitoAkihiro SakuraiHiroki KurahashiPublished in: Prenatal diagnosis (2023)
Long-read sequencing with adaptive sampling in a PGT-M pre-clinical workup is a beneficial method for identifying junctions of chromosomal complex structural rearrangements.