title: Next-generation molecular diagnosis: single-cell sequencing from bench to bedside.
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.
authors.affiliation: Department of Genetics, School of Medicine, Yale University, New Haven, CT, 06520, USA.|College of Veterinary Medicine, University of Minnesota, Twin Cities, Saint Paul, MN, 55108, USA.
authors.forename: Wanjun
authors.initials: W
authors.lastname: Zhu
authors.affiliation: Hangzhou Cancer Institution, Hangzhou Cancer Hospital, Hangzhou, 310002, Zhejiang, People's Republic of China.
authors.forename: Xiao-Yan
authors.initials: XY
authors.lastname: Zhang
authors.affiliation: Department of Biology, Central Connecticut State University, New Britain, CT, 06050, USA.
authors.forename: Sadie L
authors.initials: SL
authors.lastname: Marjani
authors.affiliation: Department of Genetics, School of Medicine, Yale University, New Haven, CT, 06520, USA.
authors.forename: Jialing
authors.initials: J
authors.lastname: Zhang
authors.affiliation: Precision Medicine Center, West China Hospital, Sichuan University, Chengdu, 610041, Sichuan, China.
authors.forename: Wengeng
authors.initials: W
authors.lastname: Zhang
authors.affiliation: Hangzhou Cancer Institution, Hangzhou Cancer Hospital, Hangzhou, 310002, Zhejiang, People's Republic of China. shixiuwu_med_2011@yeah.net.
authors.forename: Shixiu
authors.initials: S
authors.lastname: Wu
authors.affiliation: Department of Biochemistry and Molecular Biology, School of Basic Medical Sciences, Guangdong Province Key Laboratory of Biochip Technology, Southern Medical University, Guangzhou, 510515, Guangdong, People's Republic of China. panvictor@qq.com.|Department of Genetics, School of Medicine, Yale University, New Haven, CT, 06520, USA. panvictor@qq.com.
authors.forename: Xinghua
authors.initials: X
authors.lastname: Pan
mesh_terms: D000818:Animals; D006801:Humans; D025202:Molecular Diagnostic Techniques / Q000379:methods*; D009369:Neoplasms / Q000175:diagnosis / Q000235:genetics; D057285:Precision Medicine; D019836:Preimplantation Diagnosis; D017422:Sequence Analysis, DNA / Q000379:methods*; D059010:Single-Cell Analysis / Q000379:methods*; D057170:Translational Research, Biomedical
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)