Litcius/Paper detail

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

2022European Journal of Human Genetics18 citationsDOIOpen Access PDF

Topics & Concepts

Sanger sequencingGeneticsExome sequencingBiologyDNA sequencingMultiplexPedigree chartComputational biologyMultiplex ligation-dependent probe amplificationMassive parallel sequencingExonGeneMutationRNA regulation and diseaseRNA modifications and cancerCongenital heart defects research