生物
候选基因
遗传学
基因
注释
计算生物学
外显子组测序
外显子组
基因组
基因注释
表型
生物信息学
作者
Guizhe Zhao,Kuokuo Li,Bin Li,Zheng Wang,Zhenghuan Fang,Xiaomeng Wang,Yi Zhang,Tengfei Luo,Qiao Zhou,Lin Wang,Yi Xie,Yijing Wang,Qian Chen,Xia Lu,Yu Tang,Beisha Tang,Kun Xia,Jinchen Li
摘要
Abstract 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, searched, browsed, and analysed. In addition, Gene4Denovo integrated data from >60 genomic sources to provide comprehensive variant-level and gene-level annotation and information regarding the DNMs and candidate genes. Furthermore, Gene4Denovo provides end-users with limited bioinformatics skills to analyse their own genetic data, perform comprehensive annotation, and prioritize candidate genes using custom parameters. In conclusion, Gene4Denovo conveniently allows for the accelerated interpretation of DNM pathogenicity and the clinical implication of DNMs in humans.
科研通智能强力驱动
Strongly Powered by AbleSci AI