作者
Guihu Zhao, Kuokuo Li, Bin Li, Zheng Wang, Zhenghuan Fang, Xiaomeng Wang, Yi Zhang, Tengfei Luo, Qiao Zhou, Lin Wang, Yali Xie, Yijing Wang, Qian Chen, Lu Xia, Yu Tang, Beisha Tang, Kun Xia, Jinchen Li
发表日期
2020/1/8
期刊
Nucleic acids research
卷号
48
期号
D1
页码范围
D913-D926
出版商
Oxford University Press
简介
De novo mutations (DNMs) significantly contribute to sporadic diseases, particularly in neuropsychiatric disorders. Whole-exome sequencing (WES) and whole-genome sequencing (WGS) provide effective methods for detecting DNMs and prioritizing candidate genes. However, it remains a challenge for scientists, clinicians, and biologists to conveniently access and analyse data regarding DNMs and candidate genes from scattered publications. To fill the unmet need, we integrated 580 799 DNMs, including 30 060 coding DNMs detected by WES/WGS from 23 951 individuals across 24 phenotypes and prioritized a list of candidate genes with different degrees of statistical evidence, including 346 genes with false discovery rates <0.05. We then developed a database called Gene4Denovo (http://www.genemed.tech/gene4denovo/), which allowed these genetic data to be conveniently catalogued …
引用总数
2020202120222023202451517146
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