High-quality genome databases derived from large-scale,family-based birth cohorts are vital resources for investigating the genetic determinants of early-life traits and the impact of early-life environments on the he...High-quality genome databases derived from large-scale,family-based birth cohorts are vital resources for investigating the genetic determinants of early-life traits and the impact of early-life environments on the health of both parents and offspring.Here,we established a genomic platform for the Born in Guangzhou Cohort Study(BIGCS),the Genome Database of BIGCS(GDBIG),which represents the first birth cohort-based genomic database in China and is designed to facilitate intergenerational genetic research.Based on the phase I results of the BIGCS,GDBIG includes low-coverage(-6.63×)whole-genome sequencing(WGS)data and extensive pregnancy phenotypes from 4053 Chinese participants.These participants are from 30 of China’s 34 provincial-level administrative divisions,encompassing Han and 12 minority ethnic groups.Currently,GDBIG provides a range of services,including allele frequency queries for 56.23 million variants across two generations,a genotype imputation server featuring a high-quality family-based reference panel,and a genome-wide association study(GWAS)meta-analysis interface for various maternal and infant phenotypes.The GDBIG database addresses the lack of Asian birth cohort-based genomic resources and provides a valuable platform for conducting genetic analysis,accessible online or via application programming interfaces at http://gdbig.bigcs.com.cn/.展开更多
基金funded by the National Key R&D Program of China(Grant No.2024YFC2706801)the National Natural Science Foundation of China(Grant Nos.32470679,32470642,81673181,82173525,and 31900487)+1 种基金the GuangDong Basic and Applied Basic Research Foundation(Grant Nos.2022B1515120080,2022B1212010004,2020A1515110859,2020B1111170001,2019B020227001,and 2019B030301004)the Natural Science Foundation of Guangdong Province(Grant No.2022B1515120080),China.
文摘High-quality genome databases derived from large-scale,family-based birth cohorts are vital resources for investigating the genetic determinants of early-life traits and the impact of early-life environments on the health of both parents and offspring.Here,we established a genomic platform for the Born in Guangzhou Cohort Study(BIGCS),the Genome Database of BIGCS(GDBIG),which represents the first birth cohort-based genomic database in China and is designed to facilitate intergenerational genetic research.Based on the phase I results of the BIGCS,GDBIG includes low-coverage(-6.63×)whole-genome sequencing(WGS)data and extensive pregnancy phenotypes from 4053 Chinese participants.These participants are from 30 of China’s 34 provincial-level administrative divisions,encompassing Han and 12 minority ethnic groups.Currently,GDBIG provides a range of services,including allele frequency queries for 56.23 million variants across two generations,a genotype imputation server featuring a high-quality family-based reference panel,and a genome-wide association study(GWAS)meta-analysis interface for various maternal and infant phenotypes.The GDBIG database addresses the lack of Asian birth cohort-based genomic resources and provides a valuable platform for conducting genetic analysis,accessible online or via application programming interfaces at http://gdbig.bigcs.com.cn/.