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Title of Journal: Cell Mol Life Sci

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Abbravation: Cellular and Molecular Life Sciences

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Springer International Publishing

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DOI

10.1016/0921-4488(91)90013-g

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1420-9071

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Nextgeneration molecular diagnosis singlecell s

Authors: Wanjun Zhu XiaoYan Zhang Sadie L Marjani Jialing Zhang Wengeng Zhang Shixiu Wu Xinghua Pan
Publish Date: 2016/10/13
Volume: 74, Issue: 5, Pages: 869-880
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Abstract

Singlecell sequencing SCS is a fastgrowing exciting field in genomic medicine It enables the highresolution 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 ultrahigh resolution and sensitivity that allows for the noninvasive and early detection of abnormalities such as aneuploidy chromosomal translocation and singlegene disorders This review provides an overview of the current progress and prospects for the diagnostic applications of SCS specifically in preimplantation genetic diagnosis/screening noninvasive prenatal diagnosis and analysis of circulating tumor cells These analyses will accelerate the early and precise control of germline or somaticmutationbased diseases particularly singlegene disorders chromosome abnormalities and cancersThe authors thank Drs Sherman Weissman and Charles Wang for their valuable comments and suggestions This work was supported by the Southern Medical University C1033267 the National Natural Science Foundation of China No 81402529 Zhejiang Provincial Foundation for Natural Sciences No LZ15H220001 Zhejiang Science and Technology Planning Project of Health Medicine No 2015PYA009 and Hangzhou Science and Technology Development Program No 20150733Q63 and the US National Institutes of Health Grants 1P01GM09913001 and R01DK100858 The authors declare no conflict of interest

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