OGM and WES identifies translocation breakpoints in PKD1 gene in an polycystic kidney patient and healthy baby delivered using PGT

• Main Authors: Peiwen Xu (Author), Lijuan Wang (Author), Jing Li (Author), Sexin Huang (Author), Ming Gao (Author), Ranran Kang (Author), Jie Li (Author), Hongqiang Xie (Author), Xiaowei Liu (Author), Junhao Yan (Author), Xuan Gao (Author), Yuan Gao (Author)
• Format: Book
• Published: BMC, 2023-11-01T00:00:00Z.
• Subjects: article
• Online Access: Connect to this object online.

Abstract Background Autosomal dominant polycystic kidney disease (ADPKD) is one of the most common autosomal dominant genetic diseases. Whole exome sequencing (WES) is a routine tool for diagnostic confirmation of genetic diseases, and it is usually performed to confirm the clinical diagnosis in ADP...