Cellular and Molecular Life Sciences

, Volume 74, Issue 5, pp 869–880 | Cite as

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

  • Wanjun Zhu
  • Xiao-Yan Zhang
  • Sadie L. Marjani
  • Jialing Zhang
  • Wengeng Zhang
  • Shixiu WuEmail author
  • Xinghua PanEmail author


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.


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 



The 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, 1P01GM099130-01 and R01DK100858. The authors declare no conflict of interest.


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Copyright information

© Springer International Publishing 2016

Authors and Affiliations

  • Wanjun Zhu
    • 2
    • 6
  • Xiao-Yan Zhang
    • 3
  • Sadie L. Marjani
    • 4
  • Jialing Zhang
    • 2
  • Wengeng Zhang
    • 5
  • Shixiu Wu
    • 3
    Email author
  • Xinghua Pan
    • 1
    • 2
    Email author
  1. 1.Department of Biochemistry and Molecular Biology, School of Basic Medical Sciences, Guangdong Province Key Laboratory of Biochip TechnologySouthern Medical UniversityGuangzhouPeople’s Republic of China
  2. 2.Department of Genetics, School of MedicineYale UniversityNew HavenUSA
  3. 3.Hangzhou Cancer InstitutionHangzhou Cancer HospitalHangzhouPeople’s Republic of China
  4. 4.Department of BiologyCentral Connecticut State UniversityNew BritainUSA
  5. 5.Precision Medicine Center, West China HospitalSichuan UniversityChengduChina
  6. 6.College of Veterinary MedicineUniversity of MinnesotaSaint PaulUSA

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