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

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The ChinaMAP analytics of deep whole genome sequences in 10,588 individuals.
Cell Research ( IF 44.1 ) Pub Date : 2020-04-30 , DOI: 10.1038/s41422-020-0322-9
Yanan Cao _{1,

2} , Lin Li _{1,

2} , Min Xu ₁ , Zhimin Feng ₁ , Xiaohui Sun ₁ , Jieli Lu ₁ , Yu Xu ₁ , Peina Du ₁ , Tiange Wang ₁ , Ruying Hu ₃ , Zhen Ye ₃ , Lixin Shi ₄ , Xulei Tang ₅ , Li Yan ₆ , Zhengnan Gao ₇ , Gang Chen ₈ , Yinfei Zhang ₉ , Lulu Chen ₁₀ , Guang Ning ₁ , Yufang Bi ₁ , Weiqing Wang ₁ ,

Affiliation

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.
National Research Center for Translational Medicine, National Key Scientific Infrastructure for Translational Medicine (Shanghai), Shanghai Jiao Tong University, Shanghai, 200240, China.
Zhejiang Provincial Center for Disease Control and Prevention, Hangzhou, 310006, Zhejiang, China.
Affiliated Hospital of Guiyang Medical College, Guiyang, 550004, Guizhou, China.
The First Hospital of Lanzhou University, Lanzhou, 730000, Gansu, China.
Sun Yat-sen Memorial Hospital, Sun Yat-sen University, Guangzhou, 510120, Guangdong, China.
Dalian Municipal Central Hospital, Dalian, 116033, Liaoning, China.
Fujian Provincial Hospital, Fujian Medical University, Fuzhou, 350001, Fujian, China.
Central Hospital of Shanghai Jiading District, Shanghai, 201800, China.
Union Hospital, Tongji Medical College, Huazhong University of Science and Technology, Wuhan, 430022, Hubei, China.

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.

更新日期：2020-04-30

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