The ChinaMAP analytics of deep whole genome sequences in 10,588 individuals  

作　　者：Yanan Cao Lin Li Min Xu Zhimin Feng Xiaohui Sun Jieli Lu Yu Xu Peina Du Tiange Wang Ruying Hu Zhen Ye Lixin Shi Xulei Tang Li Yan Zhengnan Gao Gang Chen Yinfei Zhang Lulu Chen Guang Ning Yufang Bi Weiqing Wang The ChinaMAP Consortium 

机构地区：[1]National Clinical Research Centre for Metabolic Diseases,State Key Laboratory of Medical Genomics,Shanghai Clinical Center for Endocrine and Metabolic Diseases,Shanghai Institute for Endocrine and Metabolic Diseases,Ruijin Hospital,Shanghai Jiao Tong University School of Medicine,Shanghai 200025,China [2]National Research Center for Translational Medicine,National Key Scientific Infrastructure for Translational Medicine(Shanghai),Shanghai Jiao Tong University,Shanghai 200240,China [3]Zhejiang Provincial Center for Disease Control and Prevention,Hangzhou 310006 Zhejiang,China [4]Affiliated Hospital of Guiyang Medical College,Guiyang 550004 Guizhou,China [5]The First Hospital of Lanzhou University,Lanzhou 730000 Gansu,China [6]Sun Yat-sen Memorial Hospital,Sun Yat-sen University,Guangzhou 510120 Guangdong,China [7]Dalian Municipal Central Hospital,Dalian 116033 Liaoning,China [8]Fujian Provincial Hospital,Fujian Medical University,Fuzhou 350001 Fujian,China [9]Central Hospital of Shanghai Jiading District,Shanghai 201800,China [10]Union Hospital,Tongji Medical College,Huazhong University of Science and Technology,Wuhan 430022 Hubei,China [11]不详

出　　处：《Cell Research》2020年第9期717-731,共15页细胞研究（英文版）

基　　金：supported by the National Basic Research Program of China(973 Program;2015CB553601);the National Natural Science Foundation of China(81530020,81522032,81842015,81390352,81621061,81622011,and 81770842);the National Key R&D Program(2016YFC0905001,2017YFC0909703,2016YFC0901201,2016YFC1305600,2016YFC1305202,2017YFC1310700,2018YFC1311800,and 2018YFC1311705).

摘　　要：Metabolic diseases are the most common and rapidly growing health issues worldwide.The massive population-based human genetics is crucial for the precise prevention and intervention of metabolic disorders.The China Metabolic Analytics Project(ChinaMAP)is based on cohort studies across diverse regions and ethnic groups with metabolic phenotypic data in China.Here,we describe the centralized analysis of the deep whole genome sequencing data and the genetic bases of metabolic traits in 10,588 individuals from the ChinaMAP.The frequency spectrum of variants,population structure,pathogenic variants and novel genomic characteristics were analyzed.The individual genetic evaluations of Mendelian diseases,nutrition and drug metabolism,and traits of blood glucose and BMI were integrated.Our study establishes a large-scale and deep resource for the genetics of East Asians and provides opportunities for novel genetic discoveries of metabolic characteristics and disorders.

关 键 词：METABOLISM PREVENTION BASES 

分 类 号：Q78[生物学—分子生物学]