A MinION-Based Long-Read Sequencing Application with One-Step PCR for the Genetic Diagnosis of 21-Hydroxylase Deficiency.

Eriko AdachiRyuichi NakagawaAtsumi Tsuji-Hosokawa Maki GauShizuka KirinoAnalia YogiHisae Nakatani Kei TakasawaTomomi YamaguchiTomoki Kosho Masanori MurakamiToshihiro TajimaTomonobu HasegawaTetsuya YamadaTomohiro Morio Osamu Ohara Kenichi Kashimada

Published in: The Journal of clinical endocrinology and metabolism (2023)

We successfully established a novel low-cost and highly accurate LRS system for 21OHD genetic analysis. Our study provides insight into the feasibility of LRS for diagnosing 21OHD and other genetic diseases caused by structural rearrangements.

Keyphrases

low cost
genome wide
copy number
single molecule
gene expression
smoking cessation