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 Kurahashi

Published 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.

Keyphrases

single molecule
copy number
gene expression
dna methylation
genome wide