Identification and characterization of two DMD pedigrees with large inversion mutations based on a long-read sequencing pipeline
Chang Geng, Ciliu Zhang, Pidong Li, Yuanren Tong, Baosheng Zhu, Jing He, Yanhuan Zhao, Fengxia Yao, Liying Cui, Fan Liang, Yang Wang, Yaru Wang, Hongshuai Jin, Dandan Lang, Shanlin Liu, Depeng Wang, Min S. Park, Lin Chen, Jing Peng, Yi Dai
Topics & Concepts
Sanger sequencingGeneticsExome sequencingBiologyDNA sequencingMultiplexPedigree chartComputational biologyMultiplex ligation-dependent probe amplificationMassive parallel sequencingExonGeneMutationRNA regulation and diseaseRNA modifications and cancerCongenital heart defects research