Phenome-wide association study in 25,639 pregnant Chinese women reveals loci associated with maternal comorbidities and child health [0.03%]
基于25639名中国孕妇的表型组关联研究揭示了与母亲并发症和儿童健康相关的位点
Jintao Guo,Qiwei Guo,Taoling Zhong et al.
Jintao Guo et al.
Phenome-wide association studies (PheWAS) have been less focused on maternal diseases and maternal-newborn comorbidities, especially in the Chinese population. To enhance our understanding of the genetic basis of these related diseases, we ...
Quanze He,Hankui Liu,Lu Lu et al.
Quanze He et al.
Genetic factors significantly influence the concentration of metabolites in adults. Nevertheless, the genetic influence on neonatal metabolites remains uncertain. To bridge this gap, we employed genotype imputation techniques on large-scale...
Utilizing non-invasive prenatal test sequencing data for human genetic investigation [0.03%]
利用无创产前测序数据进行人类遗传学研究
Siyang Liu,Yanhong Liu,Yuqin Gu et al.
Siyang Liu et al.
Non-invasive prenatal testing (NIPT) employs ultra-low-pass sequencing of maternal plasma cell-free DNA to detect fetal trisomy. Its global adoption has established NIPT as a large human genetic resource for exploring genetic variations and...
Genetic analyses of 104 phenotypes in 20,900 Chinese pregnant women reveal pregnancy-specific discoveries [0.03%]
对中国20,900名孕妇进行的104种表型的基因分析发现了与妊娠相关的特异性发现
Han Xiao,Linxuan Li,Meng Yang et al.
Han Xiao et al.
Monitoring biochemical phenotypes during pregnancy is vital for maternal and fetal health, allowing early detection and management of pregnancy-related conditions to ensure safety for both. Here, we conducted a genetic analysis of 104 pregn...
FUSE: Improving the estimation and imputation of variant impacts in functional screening [0.03%]
FUSE：改进功能筛查中变异影响的估计和插补
Tian Yu,James D Fife,Vineel Bhat et al.
Tian Yu et al.
Deep mutational scanning enables high-throughput functional assessment of genetic variants. While phenotypic measurements from screening assays generally align with clinical outcomes, experimental noise may affect the accuracy of individual...
Genome-wide association study of maternal plasma metabolites during pregnancy [0.03%]
孕期母体血浆代谢物的全基因组关联分析
Siyang Liu,Jilong Yao,Liang Lin et al.
Siyang Liu et al.
Metabolites are key indicators of health and therapeutic targets, but their genetic underpinnings during pregnancy-a critical period for human reproduction-are largely unexplored. Using genetic data from non-invasive prenatal testing, we pe...
Novel insights into the genetic architecture of pregnancy glycemic traits from 14,744 Chinese maternities [0.03%]
来自14,744例中国孕产妇的孕期血糖特征遗传结构的新见解
Huanhuan Zhu,Han Xiao,Linxuan Li et al.
Huanhuan Zhu et al.
Glycemic traits are critical indicators of maternal and fetal health during pregnancy. We performed genetic analysis for five glycemic traits in 14,744 Chinese pregnant women. Our genome-wide association study identified 25 locus-trait asso...
Yuerong Wang,Xian Fu,Yue Shen
Yuerong Wang
The molecular mechanisms underlying the paradoxical effects1 of aneuploidy are still not completely understood. In this issue, Rojas et al.2 systematically analyzed the associated costs of aneuploidy and the molecular drivers involved, whic...
Unlocking the genetic influence on milk variation and its potential implication for infant health [0.03%]
揭示遗传因素对牛奶变异的影响及其对未来婴儿健康的意义
Claudia Nussbaum,Sarah Kim-Hellmuth
Claudia Nussbaum
Human milk has long been recognized for its critical role in infant and maternal health. In this issue of Cell Genomics, Johnson et al.1 apply a human genetics and genomics approach to shed light on the complex relationship between maternal...
Comparative modeling reveals the molecular determinants of aneuploidy fitness cost in a wild yeast model [0.03%]
比较模型研究揭示了野生酵母模型中非整倍体适应性下降的分子决定因素
Julie Rojas,James Hose,H Auguste Dutcher et al.
Julie Rojas et al.
Although implicated as deleterious in many organisms, aneuploidy can underlie rapid phenotypic evolution. However, aneuploidy will be maintained only if the benefit outweighs the cost, which remains incompletely understood. To quantify this...
Comparative Study
Cell genomics. 2024 Oct 9;4(10):100656. DOI:10.1016/j.xgen.2024.100656 2024