拷贝数变异(copy number variation,CNV)是基因组结构变异中的一个重要类型,它在人类很多复杂疾病的发生和发展过程中扮演着重要角色。当前CNV的识别研究,主要集中在单一样本相对于参考序列的CNV识别,以及针对成对样本的CNV识别。然而,...拷贝数变异(copy number variation,CNV)是基因组结构变异中的一个重要类型,它在人类很多复杂疾病的发生和发展过程中扮演着重要角色。当前CNV的识别研究,主要集中在单一样本相对于参考序列的CNV识别,以及针对成对样本的CNV识别。然而,这种单纯基于个体水平的CNV分析,只能局限于个体之间而无法进行亲本到子代的遗传学分析。本文基于千人基因组计划中三样本父-母-子代的家系数据,寻找子代相对于父、母的变异区域,不仅识别出子女继承自父母的CNV,并通过分层聚类分析推断出这些CNV的生成方式,同时还检测出少量疑似子代相对于父母的纯合CNV变异。展开更多
The microbiome of females undergoes extensive remodeling during pregnancy, which is likely to have an impact on the health of both mothers and offspring. Nevertheless, large-scale integrated investigations characteriz...The microbiome of females undergoes extensive remodeling during pregnancy, which is likely to have an impact on the health of both mothers and offspring. Nevertheless, large-scale integrated investigations characterizing microbiome dynamics across key body habitats are lacking. Here, we performed an extensive meta-analysis that compiles and analyzes microbiome profiles from >10,000 samples across the gut,vagina, and oral cavity of pregnant women from diverse geographical regions. We have unveiled unexpected variations in the taxonomic, functional, and ecological characteristics of microbial communities throughout the course of pregnancy. The gut microbiota showed distinct trajectories between Western and non-Western populations. The vagina microbiota exhibited fluctuating transitions at the genus level across gestation, while the oral microbiota remained relatively stable. We also identified distinctive microbial signatures associated with prevalent pregnancy-related disorders, including opposite variations in the oral and gut microbiota of patients with gestational diabetes and disrupted microbial networks in preterm birth. This study establishes a comprehensive atlas of the pregnancy microbiome by integrating multidimensional datasets and offers foundational insights into the intricate interplay between microbes and host factors that underlie reproductive health.展开更多
文摘拷贝数变异(copy number variation,CNV)是基因组结构变异中的一个重要类型,它在人类很多复杂疾病的发生和发展过程中扮演着重要角色。当前CNV的识别研究,主要集中在单一样本相对于参考序列的CNV识别,以及针对成对样本的CNV识别。然而,这种单纯基于个体水平的CNV分析,只能局限于个体之间而无法进行亲本到子代的遗传学分析。本文基于千人基因组计划中三样本父-母-子代的家系数据,寻找子代相对于父、母的变异区域,不仅识别出子女继承自父母的CNV,并通过分层聚类分析推断出这些CNV的生成方式,同时还检测出少量疑似子代相对于父母的纯合CNV变异。
基金supported by the National Key R&D Program of China (2022YFA1303900, 2021YFA1301000, and 2022YFC2704702)the National Natural Science Foundation of China(32001082, 32025009, and 82271662)+2 种基金Military Innovation Project Special Project (21JSZ06)Shanghai Shen-Kang Hospital Development Center Special Medical Enterprise Integration Innovation Achievements (SHDC2022CRD007)Postdoctoral Fellowship Program of CPSF (GZC20232650)。
文摘The microbiome of females undergoes extensive remodeling during pregnancy, which is likely to have an impact on the health of both mothers and offspring. Nevertheless, large-scale integrated investigations characterizing microbiome dynamics across key body habitats are lacking. Here, we performed an extensive meta-analysis that compiles and analyzes microbiome profiles from >10,000 samples across the gut,vagina, and oral cavity of pregnant women from diverse geographical regions. We have unveiled unexpected variations in the taxonomic, functional, and ecological characteristics of microbial communities throughout the course of pregnancy. The gut microbiota showed distinct trajectories between Western and non-Western populations. The vagina microbiota exhibited fluctuating transitions at the genus level across gestation, while the oral microbiota remained relatively stable. We also identified distinctive microbial signatures associated with prevalent pregnancy-related disorders, including opposite variations in the oral and gut microbiota of patients with gestational diabetes and disrupted microbial networks in preterm birth. This study establishes a comprehensive atlas of the pregnancy microbiome by integrating multidimensional datasets and offers foundational insights into the intricate interplay between microbes and host factors that underlie reproductive health.
