single cell DNA sequencing

  • 文章类型: Editorial
    《病理学杂志》2022年年度评论,病理学的最新进展,包含15篇关于病理学中日益重要的研究领域的特邀评论。今年,这些文章包括那些专注于数字病理学的文章,采用现代成像技术和软件来改进诊断和研究应用,以研究人类疾病。该主题领域包括通过其诱导的形态变化来识别特定遗传改变的能力,以及将数字和计算病理学与组学技术集成。本期的其他评论包括对癌症突变模式(突变特征)的最新评估,谱系追踪在人体组织中的应用,和单细胞测序技术来揭示肿瘤进化和肿瘤异质性。组织微环境包含在专门处理表皮分化的蛋白水解控制的综述中,癌症相关成纤维细胞,场抵消,和决定肿瘤免疫的宿主因子。本期中包含的所有评论都是受邀专家的工作,这些专家被选中讨论各自领域的最新进展,并且可以在线免费获得(https://onlinelibrary。wiley.com/journal/10969896)。©2022英国和爱尔兰病理学会。由JohnWiley&Sons出版,Ltd.
    The 2022 Annual Review Issue of The Journal of Pathology, Recent Advances in Pathology, contains 15 invited reviews on research areas of growing importance in pathology. This year, the articles include those that focus on digital pathology, employing modern imaging techniques and software to enable improved diagnostic and research applications to study human diseases. This subject area includes the ability to identify specific genetic alterations through the morphological changes they induce, as well as integrating digital and computational pathology with \'omics technologies. Other reviews in this issue include an updated evaluation of mutational patterns (mutation signatures) in cancer, the applications of lineage tracing in human tissues, and single cell sequencing technologies to uncover tumour evolution and tumour heterogeneity. The tissue microenvironment is covered in reviews specifically dealing with proteolytic control of epidermal differentiation, cancer-associated fibroblasts, field cancerisation, and host factors that determine tumour immunity. All of the reviews contained in this issue are the work of invited experts selected to discuss the considerable recent progress in their respective fields and are freely available online (https://onlinelibrary.wiley.com/journal/10969896). © 2022 The Pathological Society of Great Britain and Ireland. Published by John Wiley & Sons, Ltd.
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  • 文章类型: Journal Article
    在种系和植入前胚胎中,基因组和染色体变化的发生率很高。要直接在哺乳动物的种系中研究这种变化,需要获得材料以及单细胞基因组学。最近在胚胎学和单细胞DNA扩增方面的改进使直接研究人类卵母细胞中的基因组变化成为可能。精子,和植入前胚胎。这对于直接研究人类卵母细胞和植入前胚胎中的染色体分离尤为重要。这里,我们提出了一种从单细胞中获得高质量DNA序列和基因型的实用方法,使用人工处理材料,可以检测从单个核苷酸变化到整个染色体非整倍体的减数分裂和有丝分裂的基因组变化。
    Genomic and chromosomal changes occur with a high rate in the germline and preimplantation embryos. To study such changes directly in the germline of mammals requires access to material as well as single cell genomics. Recent improvements in embryology and single-cell DNA amplification make it possible to study the genomic changes directly in human oocytes, sperm, and preimplantation embryos. This is particularly important for the study of chromosome segregation directly in human oocytes and preimplantation embryos. Here, we present a practical approach how to obtain high quality DNA sequences and genotypes from single cells, using manual handling of the material that makes it possible to detect genomic changes in meiosis and mitosis spanning the entire range from single nucleotide changes to whole chromosome aneuploidies.
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