Next-generation molecular diagnosis: single-cell sequencing from bench to bedside

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• 作者：Wanjun Zhu ; Xiao-Yan Zhang ; Sadie L. Marjani…
• 关键词：Single ; cell analysis (SCA) ; Single ; cell sequencing (SCS) ; Pre ; implantation genetic diagnosis (PGD) ; Pre ; implantation genetic screening (PGS) ; Non ; invasive prenatal diagnosis (NIPD) ; Precision medicine ; Circulating tumor cells (CTCs) ; Liquid biopsies
• 刊名：Cellular and Molecular Life Sciences
• 出版年：2017
• 出版时间：March 2017
• 年：2017
• 卷：74
• 期：5
• 页码：869-880
• 全文大小：
• 刊物类别：Biomedical and Life Sciences
• 刊物主题：Cell Biology; Biomedicine, general; Life Sciences, general; Biochemistry, general;
• 出版者：Springer International Publishing
• ISSN：1420-9071
• 卷排序：74

文摘

Single-cell sequencing (SCS) is a fast-growing, exciting field in genomic medicine. It enables the high-resolution study of cellular heterogeneity, and reveals the molecular basis of complicated systems, which facilitates the identification of new biomarkers for diagnosis and for targeting therapies. It also directly promotes the next generation of genomic medicine because of its ultra-high resolution and sensitivity that allows for the non-invasive and early detection of abnormalities, such as aneuploidy, chromosomal translocation, and single-gene disorders. This review provides an overview of the current progress and prospects for the diagnostic applications of SCS, specifically in pre-implantation genetic diagnosis/screening, non-invasive prenatal diagnosis, and analysis of circulating tumor cells. These analyses will accelerate the early and precise control of germline- or somatic-mutation-based diseases, particularly single-gene disorders, chromosome abnormalities, and cancers.