NeuroCNVscore: a tissue-specific framework to prioritise the pathogenicity of CNVs in neurodevelopmental disorders

• Main Authors: Wei Li (Author), Peng Zhang (Author), Yue Zhang (Author), Xin Ni (Author), Ruolan Guo (Author), Wenjian Xu (Author), Chanjuan Hao (Author), Xuanshi Liu (Author), Fei Leng (Author)
• Format: Book
• Published: BMJ Publishing Group, 2023-12-01T00:00:00Z.
• Subjects: article
• Online Access: Connect to this object online.

Background Neurodevelopmental disorders (NDDs) are associated with altered development of the brain especially in childhood. Copy number variants (CNVs) play a crucial role in the genetic aetiology of NDDs by disturbing gene expression directly at linear sequence or remotely at three-dimensional gen...