Skip to main page content
U.S. flag

An official website of the United States government

Dot gov

The .gov means it’s official.
Federal government websites often end in .gov or .mil. Before sharing sensitive information, make sure you’re on a federal government site.

Https

The site is secure.
The https:// ensures that you are connecting to the official website and that any information you provide is encrypted and transmitted securely.

Access keys NCBI Homepage MyNCBI Homepage Main Content Main Navigation
Review
. 2017 Mar;74(5):869-880.
doi: 10.1007/s00018-016-2368-x. Epub 2016 Oct 13.

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

Wanjun Zhu  1   2 , Xiao-Yan Zhang  3 , Sadie L Marjani  4 , Jialing Zhang  1 , Wengeng Zhang  5 , Shixiu Wu  6 , Xinghua Pan  7   8
Affiliations
Review

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

Wanjun Zhu et al. Cell Mol Life Sci. 2017 Mar.

Abstract

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.

Keywords: Circulating tumor cells (CTCs); Liquid biopsies; Non-invasive prenatal diagnosis (NIPD); Pre-implantation genetic diagnosis (PGD); Pre-implantation genetic screening (PGS); Precision medicine; Single-cell analysis (SCA); Single-cell sequencing (SCS).

PubMed Disclaimer

Figures

Fig. 1
Fig. 1
SCS application in PGD/PGS. For a 6–8-cell embryo, only one cell is analyzed, while one or a few cells are tested from a blastocyst. Then, the genome (scWGS), exome (scWES), and potentially the RNA (scRNA-seq) and CpG methylation (scMethyl-seq, or scM-seq) of the single cells are amplified and sequenced by the next-generation sequencer, such as Illumina HiSeq. Only the genetically normal embryo is transferred for the development of a healthy baby
See this image and copyright information in PMC

References

    1. Novick A, Weiner M. Enzyme induction as an all-or-none phenomenon. Proc Natl Acad Sci USA. 1957;43(7):553–566. doi: 10.1073/pnas.43.7.553. - DOI - PMC - PubMed
    1. Marinov GK, Williams BA, McCue K, Schroth GP, Gertz J, Myers RM, Wold BJ. From single-cell to cell-pool transcriptomes: stochasticity in gene expression and RNA splicing. Genome Res. 2014;24(3):496–510. doi: 10.1101/gr.161034.113. - DOI - PMC - PubMed
    1. Wilson NK, Kent DG, Buettner F, Shehata M, Macaulay IC, Calero-Nieto FJ, Sanchez Castillo M, Oedekoven CA, Diamanti E, Schulte R, Ponting CP, Voet T, Caldas C, Stingl J, Green AR, Theis FJ, Gottgens B. Combined single-cell functional and gene expression analysis resolves heterogeneity within stem cell populations. Cell Stem Cell. 2015;16(6):712–724. doi: 10.1016/j.stem.2015.04.004. - DOI - PMC - PubMed
    1. Coskun AF, Eser U, Islam S. Cellular identity at the single-cell level. Mol BioSyst. 2016 - PubMed
    1. Speicher MR. Single-cell analysis: toward the clinic. Genome Med. 2013;5(8):74. doi: 10.1186/gm478. - DOI - PMC - PubMed