GRAde: a long-read sequencing approach to efficiently identifying the CYP11B1/CYP11B2 chimeric form in patients with glucocorticoid-remediable aldosteronism.

Yu-Ching WuChia-I ChenPeng-Ying ChenChun-Hung KuoYi-Hsuan HungKang-Yung PengVin-Cent WuJyy-Jih Tsai-WuChia-Lang Hsunull null

Published in: BMC bioinformatics (2022)

PCR-based target enrichment followed by long-read sequencing is an efficient and precise approach to dissecting complex genomic regions, such as those involved in GRA mutations, which could be directly applied to clinical diagnosis. The scripts of GRAde are available at https://github.com/hsu-binfo/GRAde .

Keyphrases

single cell
single molecule
cell therapy
gene expression
copy number
dna methylation