The application of whole-exome sequencing in the early diagnosis of rare genetic diseases in children: a study from Southeastern China

• Main Authors: Guihua Lai (Author), Qiying Gu (Author), Zhiyong Lai (Author), Haijun Chen (Author), Junkun Chen (Author), Jungao Huang (Author)
• Format: Book
• Published: Frontiers Media S.A., 2024-10-01T00:00:00Z.
• Subjects: article
• Online Access: Connect to this object online.

BackgroundGenetic diseases exhibit significant clinical and genetic diversity, leading to a complex and challenging diagnostic process. Exploiting novel approaches is imperative for the molecular diagnosis of genetic diseases. In this study, we utilized whole-exome sequencing (WES) to facilitate ear...