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

• मुख्य लेखकों: Wei Li (लेखक), Peng Zhang (लेखक), Yue Zhang (लेखक), Xin Ni (लेखक), Ruolan Guo (लेखक), Wenjian Xu (लेखक), Chanjuan Hao (लेखक), Xuanshi Liu (लेखक), Fei Leng (लेखक)
• स्वरूप: पुस्तक
• प्रकाशित: BMJ Publishing Group, 2023-12-01T00:00:00Z.
• विषय: article
• ऑनलाइन पहुंच: 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...