MosaicBase:A Knowledgebase of Postzygotic Mosaic Variants in Noncancer Disease-related and Healthy Human Individuals

作     者：Xiaoxu Yang Changhong Yang Xianing Zheng Luoxing Xiong Yutian Tao Meng Wang Adam Yongxin Ye Qixi Wu Yanmei Dou Junyu Luo Liping Wei August Yue Huang Xiaoxu Yang;Changhong Yang;Xianing Zheng;Luoxing Xiong;Yutian Tao;Meng Wang;Adam Yongxin Ye;Qixi Wu;Yanmei Dou;Junyu Luo;Liping Wei;August Yue Huang

作者机构：Center for BioinformaticsState Key Laboratory of Protein and Plant Gene ResearchSchool of Life SciencesPeking UniversityBeijing 100871China Department of BioinformaticsChongqing Medical UniversityChongqing 400016China College of Life SciencesBeijing Normal UniversityBeijing 100875China National Institute of Biological SciencesBeijing 102206China Peking-Tsinghua Center for Life Sciences(CLS)Academy for Advanced Interdisciplinary StudiesPeking UniversityBeijing 100871China Chinese Academy of Medical Sciences and Peking Union Medical CollegeBeijing 100730China School of Life SciencesPeking UniversityBeijing 100871China 

出 版 物：《Genomics, Proteomics & Bioinformatics》 (基因组蛋白质组与生物信息学报（英文版）)

年 卷 期：2020年第18卷第2期

页      面：140-149页

核心收录：

学科分类：0710[理学-生物学] 1001[医学-基础医学(可授医学、理学学位)] 07[理学] 071007[理学-遗传学] 0714[理学-统计学（可授理学、经济学学位）] 0703[理学-化学] 0701[理学-数学] 0812[工学-计算机科学与技术（可授工学、理学学位）] 

基　　金：supported by grants from the National Natural Science Foundation of China(Grant No.31530092) the Ministry of Science and Technology of China(Grant No.2015AA020108)awarded to LW 

主　　题：Postzygotic Mosaicism Noncancer Mutation MosaicBase 

摘      要：Mosaic variants resulting from postzygotic mutations are prevalent in the human genome and play important roles in human ***,except for cancer-related variants,there is no collection of postzygotic mosaic variants in noncancer disease-related and healthy ***,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 *** and phenotypic information of each variant was manually extracted and curated from 383 *** supports the query of variants with Online Mendelian Inheritance in Man(OMIM)entries,genomic coordinates,gene symbols,or Entrez *** also provide an integrated genome browser for users to easily access mosaic variants and their related annotations for any genomic *** 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 *** 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 *** is publicly available at http://***/or http://49.***.21.8:8000.