1. MosaicBase: A Knowledgebase of Postzygotic Mosaic Variants in Noncancer Disease-related and Healthy Human Individuals
- Author
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Yutian Tao, Qixi Wu, Junyu Luo, August Yue Huang, Adam Yongxin Ye, Liping Wei, Yanmei Dou, Meng Wang, Xiaoxu Yang, Xianing Zheng, Changhong Yang, and Luoxing Xiong
- Subjects
Postzygotic ,Zygote ,Knowledge Bases ,medicine.disease_cause ,Biochemistry ,Mathematical Sciences ,User-Computer Interface ,0302 clinical medicine ,Noncancer ,Integrated Genome Browser ,Databases, Genetic ,OMIM : Online Mendelian Inheritance in Man ,2.1 Biological and endogenous factors ,Disease ,Aetiology ,lcsh:QH301-705.5 ,Genetics ,0303 health sciences ,education.field_of_study ,Mutation ,Genome ,Mosaicism ,Biological Sciences ,Phenotype ,Computational Mathematics ,Health ,Human ,Biotechnology ,Bioinformatics ,Genetic counseling ,MosaicBase ,Population ,Biology ,Database ,03 medical and health sciences ,Databases ,Rare Diseases ,Genetic ,Information and Computing Sciences ,medicine ,Humans ,education ,Molecular Biology ,Gene ,030304 developmental biology ,Genome, Human ,Human Genome ,lcsh:Biology (General) ,Human genome ,030217 neurology & neurosurgery ,Software - Abstract
Mosaic variants resulting from postzygotic mutations are prevalent in the human genome and play important roles in human diseases. However, except for cancer-related variants, there is no collection of postzygotic mosaic variants in noncancer disease-related and healthy individuals. Here, we present MosaicBase, a comprehensive database that includes 6698 mosaic variants related to 266 noncancer diseases and 27,991 mosaic variants identified in 422 healthy individuals. Genomic and phenotypic information of each variant was manually extracted and curated from 383 publications. MosaicBase supports the query of variants with Online Mendelian Inheritance in Man (OMIM) entries, genomic coordinates, gene symbols, or Entrez IDs. We also provide an integrated genome browser for users to easily access mosaic variants and their related annotations for any genomic region. By analyzing the variants collected in MosaicBase, we find that mosaic variants that directly contribute to disease phenotype show features distinct from those of variants in individuals with mild or no phenotypes, in terms of their genomic distribution, mutation signatures, and fraction of mutant cells. MosaicBase will not only assist clinicians in genetic counseling and diagnosis but also provide a useful resource to understand the genomic baseline of postzygotic mutations in the general human population. MosaicBase is publicly available at http://mosaicbase.com/ or http://49.4.21.8:8000.
- Published
- 2020