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

Cell Mol Life Sci. 2017 Mar;74(5):869-880. doi: 10.1007/s00018-016-2368-x. Epub 2016 Oct 13.

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).

Publication types

  • Review

MeSH terms

  • Animals
  • Humans
  • Molecular Diagnostic Techniques / methods*
  • Neoplasms / diagnosis
  • Neoplasms / genetics
  • Precision Medicine
  • Preimplantation Diagnosis
  • Sequence Analysis, DNA / methods*
  • Single-Cell Analysis / methods*
  • Translational Research, Biomedical*