Article
PsyMuKB: An Integrative De Novo Variant Knowledge Base for Developmental Disorders.
Genomics, proteomics & bioinformatics - 1 Aug 2019
Lin Guan Ning, Guo Sijia, Tan Xian, Wang Weidi, Qian Wei, Song Weichen, Wang Jingru, Yu Shunying, Wang Zhen, Cui Donghong, Wang Han
Abstract excerpt
De novo variants (DNVs) are one of the most significant contributors to severe early-onset genetic disorders such as autism spectrum disorder, intellectual disability, and other developmental and neuropsychiatric (DNP) disorders. Presently, a plethora of DNVs have been identified using next-generation sequencing, and many efforts have been made to understand their impact at the gene level. However, there has been...
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