Journal
NUCLEIC ACIDS RESEARCH
Volume 48, Issue D1, Pages D913-D926Publisher
OXFORD UNIV PRESS
DOI: 10.1093/nar/gkz923
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Funding
- National Natural Science Foundation of China [81801133]
- Young Elite Scientist Sponsorship Program by CAST [2018QNRC001]
- Innovation-Driven Project of Central South University [20180033040004]
- Natural Science Foundation for Young Scientists of Hunan Province, China [2019JJ50974]
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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 DMA pathogenicity and the clinical implication of DNMs in humans.
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