title: Next-generation sequencing in the clinic: promises and challenges.
abstract: The advent of next generation sequencing (NGS) technologies has revolutionized the field of genomics, enabling fast and cost-effective generation of genome-scale sequence data with exquisite resolution and accuracy. Over the past years, rapid technological advances led by academic institutions and companies have continued to broaden NGS applications from research to the clinic. A recent crop of discoveries have highlighted the medical impact of NGS technologies on Mendelian and complex diseases, particularly cancer. However, the ever-increasing pace of NGS adoption presents enormous challenges in terms of data processing, storage, management and interpretation as well as sequencing quality control, which hinder the translation from sequence data into clinical practice. In this review, we first summarize the technical characteristics and performance of current NGS platforms. We further highlight advances in the applications of NGS technologies towards the development of clinical diagnostics and therapeutics. Common issues in NGS workflows are also discussed to guide the selection of NGS platforms and pipelines for specific research purposes.
authors.affiliation: School of Pharmacy, Fudan University, 826 Zhangheng Road, Shanghai 201203, China; National Center for Toxicological Research, US Food and Drug Administration, 3900 NCTR Road, Jefferson, AR 72079, USA.
authors.forename: Jiekun
authors.initials: J
authors.lastname: Xuan
authors.forename: Ying
authors.initials: Y
authors.lastname: Yu
authors.forename: Tao
authors.initials: T
authors.lastname: Qing
authors.forename: Lei
authors.initials: L
authors.lastname: Guo
authors.forename: Leming
authors.initials: L
authors.lastname: Shi
mesh_terms: D000818:Animals; D014408:Biomarkers, Tumor / Q000235:genetics*; D019295:Computational Biology; D004252:DNA Mutational Analysis; D019143:Evolution, Molecular; D015972:Gene Expression Regulation, Neoplastic; D053263:Gene Regulatory Networks; D020022:Genetic Predisposition to Disease; D005820:Genetic Testing; D015894:Genome, Human; D023281:Genomics / Q000379:methods*; D059014:High-Throughput Nucleotide Sequencing; D006801:Humans; D009154:Mutation; D009369:Neoplasms / Q000175:diagnosis / Q000235:genetics* / Q000628:therapy; D010641:Phenotype; D057285:Precision Medicine; D011237:Predictive Value of Tests; D011379:Prognosis; D017422:Sequence Analysis, DNA; D017423:Sequence Analysis, RNA; D018511:Systems Integration
chemical_list: D014408:Biomarkers, Tumor