Article
Identification and characterization of two DMD pedigrees with large inversion mutations based on a long-read sequencing pipeline.
European journal of human genetics : EJHG - 1 May 2023
Geng Chang, Zhang Ciliu, Li Pidong, Tong Yuanren, Zhu Baosheng, He Jing, Zhao Yanhuan, Yao Fengxia, Cui Li-Ying, Liang Fan, Wang Yang, Wang Yaru, Jin Hongshuai, Lang Dandan, Liu Shanlin, Wang Depeng, Park Min S, Chen Lin, Peng Jing, Dai Yi
Abstract excerpt
Pathogenic large inversions are rarely reported on DMD gene due to the lack of effective detection methods. Here we report two DMD pedigrees and proposed a reliable pipeline to define large inversions in DMD patients. In the first pedigree, conventional approaches including multiplex ligation-dependent probe amplification, and whole-exome sequencing by next generation sequencing were failed to detect any...
Read the complete abstract on PubMedTopics
Share this publication in a Topic to start or enrich a Post.