1.多维表型大数据,并采集外周血、胎盘、脐带、脐血、新生儿干血片等生物样本。
基于采集的生物样本开展多组学研究,积累了超1000名孕妇及儿童肠道菌群宏基因组数据,2000对亲子全基因组遗传信息,200对亲子免疫组库信息,暴露组、转录组、代谢组数据也在陆续产生中,成为国家妇女儿童健康研究的重要战略资源和科技平台。
2.建立符合国际标准的千万级生物样本库
广州出生队列生物样本库已建立一整套标准操作流程,基于队列信息系统实现样本采集、样本处理、样本储存、样本出库、样本处置全流程闭环管理。样本库采用双分管、双温度(-80℃及液氮)双备份保存,确保样本质量及安全。截至2023年12月底,拥有50台超低温冰箱,28个大型液氮罐,在库标本超280万人份,包括孕期父母血液、胎盘、脐带、脐血、儿童血液等标本,为疾病的溯源研究提供了有力支撑。
3.建立自主研发的信息化平台
广州出生队列开发了具有自主知识产权的信息管理系统,实现全流程信息化管理,并与医院信息系统关联,实时获取准确的多维表型信息。通过数据标准化处理,对收集的流行病学、实验室检测、影像、组学等数据进行整合,逐步建成出生队列多模态数据库,实现广州出生队列主要数据指标可视化展示(广州出生队列官网http://www.bigcs.com.cn/),积极推动了科研数据共享和合作。
4.建立广州出生队列基因组数据库及应用网站
开展基因组学研究,建立广州出生队列基因组数据库(GDBIG),该数据库包含了2000对亲子的基因型和表型信息,提取了全基因组测序中任何检测到的变异以及相应的等位基因频率、注释信息、以及与现有全球其他人群的频率比较等,填补了国内母婴组学数据空白。同时建成应用网站(http://gdbig.bigcs.com.cn/),为研究人员提供了在不公开原始基因数据前提下,实现科研数据共享和分析的研究方式。
5.聚焦母儿健康,开展广泛的人群和基础研究
基于已建立的数据库和生物样本库,开展广泛的流行病学、基因组学、代谢组学、免疫组学、宏基因组学等研究分析,累计在Nature、GigaScience、BJOG等高水平期刊发表研究论文100余篇。

[1]Shu-Jia Huang, Si-Yang Liu, Ming-Xi Huang, Jian-Rong He1, Cheng-Rui Wang, Tian-Yi Wang, Xiao-Tian Feng, Ya-Shu Kuang, Jin-Hua Lu, Yu-Qin Gu, Xiao-Yan Xia, Shan-Shan Lin, Born in Guangzhou Cohort Study (BIGCS) Group, Wen-Hao Zhou, Qiao-Mei Fu, Hui-Min Xia, Xiu Qiu. The Born in Guangzhou Cohort Study Enables Generational Genetic Discoveries. Nature. 2024 (accepted)
[2]Wen-Yu Liu, Jin-Hua Lu, Jian-Rong He, Li-Fang Zhang, Dong-Mei Wei, Cheng-Rui Wang, Xiong Xiao, Hui-Min Xia, Xiu Qiu. Combined Effects of Air pollutants on Gestational Diabetes Mellitus: a Prospective Cohort Study. Environmental Research. 2022;204 (Pt D):112393.
[3]Jian-Rong He, Rema Ramakrishnan, Xue-Ling Wei, Jin-Hua Lu, Min-Shan Lu, Wan-Qing Xiao, Si Tu, Xian Liu, Feng-Juan Zhou, Li-Fang Zhang, Hui-Min Xia, Xiu Qiu. Fetal growth at different gestational periods and risk of impaired childhood growth, low childhood weight, and obesity: A prospective birth cohort study. BJOG. 2021;128(10):1615-1624.
[4]Jing-Ya Wang,Song-Ying Shen,Malcolm James Price,Jin-Hua Lu,Dana Sumilo,Ya-Shu Kuang,Konstantinos Manolopoulos,Hui-Min Xia,Xiu Qiu,Kar Keung Cheng,Krishnarajah Nirantharakumar. Glucose, insulin, and lipids in cord blood of neomates and their association with birthweight: differential metabolic risk of large of gestational age and small of gestational age babies. Journal of Pediatrics.2020,220:64-72.e2.
[5]Ya-Shu Kuang, Jin-Hua Lu, Sheng-Hui Li, Jun-Hua Li, Ming-Yang Yuan, Jian-Rong He, Nian-Nian Chen, Wan-Qing Xiao, Song-Ying Shen, Lan Qiu , Ying-Fang Wu, Cui-Yue Hu, Yan-Yan Wu, Wei-Dong Li, Qiao-Zhu Chen, Hong-Wen Deng, Christopher J Papasian, Hui-Min Xia, Xiu Qiu.Connections between human gut microbiome and gestational diabetes mellitus.GigaScience. 2017;6(8):1-12.
[6]Jian-Rong He, Dong-Mei Wei, Fan-Fan Chan, Yun-Zhu Luan, Si Tu, Jin-Hua Lu, Wei-Dong Li, Ming-Yang Yuan, Nian-Nian Chen, Qiao-Zhu Chen, Kin Bong Hubert Lam, Kar Keung Cheng, Hui-Min Xia, Xiu Qiu. Associations between maternal exposure to incense burning and blood pressure during pregnancy. Science of the Total Environment. 2017;610-611:1421-1427.
[7]Song-Ying Shen, Jin-Hua Lu, Li-Fang Zhang, Jian-Rong He, Wei-Dong Li, Nian-Nian Chen, Xing-Xuan Wen, Wan-Qing Xiao, Ming-Yang Yuan, Lan Qiu, Kar Keung Cheng, Hui-Min Xia, Ben Willem J Mol, Xiu Qiu. Single Fasting Plasma Glucose Versus 75-g Oral Glucose-Tolerance Test in Prediction of Adverse Perinatal Outcomes: A Cohort Study. EBioMedicine. 2017;16:284-291.
[8]Dong-Mei Wei, Song-Ying Shen, Jin-Hua Lu, Wen-Yu Liu, Nian-Nian Chen, Kin Bong Hubert Lam, Shiu Lun Au Yeung, Hui-Min Xia, Xiu Qiu.Association between incense burning and prenatal depressive symptoms: evidence from the Born in Guangzhou Cohort Study. Environmental Science and Pollution Research. 2023;30(14):40860-40869.
[9]Qi-Qing Ye, Shao-Min Kong, Xin Yin, Chang Gao, Min-Shan Lu, Rema Ramakrishnan, Cheng Guo, Wang Yao, Ji-Yuan Zeng, Ya-Shu Kuang, Jin-Hua Lu, Jian-Rong He, Xiu Qiu. Associations of Cord Blood Lipids with Childhood Adiposity at the Age of Three Years: A Prospective Birth Cohort Study. Metabolites. 2022; 12(6):522.
[10]Xue-Ling Wei, Pei-Yuan Huang, Chang Gao, Song-Ying Shen, Si Tu, Yi-Xin Guo, Li-Fang Zhang, Min-Shan Lu, Jin-Hua Lu, Chi Chiu Wang, Jian-Rong He, Xiu Qiu. Associations of maternal weight status with the risk of offspring atopic dermatitis and wheezing by 1 year of age. Pediatric Allergy and Immunology. 2022; 33(1):e13703.
[11]Pei-Yuan Huang, Dong-Mei Wei, Wan-Qing Xiao, Ming-Yang Yuan, Nian-Nian Chen, Xue-Ling Wei, Jun-Yi Xie, Jin-Hua Lu, Xiao-Yan Xia, Min-Shan Lu, Song-Ying Shen, Jian-Rong He, Xiu Qiu. Maternal dietary patterns and depressive symptoms during pregnancy: The Born in Guangzhou Cohort Study. Clinical Nutrition. 2021;40(5):3485-3494.