title: High-throughput sequencing technologies.
abstract: The human genome sequence has profoundly altered our understanding of biology, human diversity, and disease. The path from the first draft sequence to our nascent era of personal genomes and genomic medicine has been made possible only because of the extraordinary advancements in DNA sequencing technologies over the past 10 years. Here, we discuss commonly used high-throughput sequencing platforms, the growing array of sequencing assays developed around them, as well as the challenges facing current sequencing platforms and their clinical application.
authors.affiliation: Department of Genetics, Stanford University School of Medicine, Stanford, CA 94305, USA.
authors.forename: Jason A
authors.initials: JA
authors.lastname: Reuter
authors.affiliation: Department of Genetics, Stanford University School of Medicine, Stanford, CA 94305, USA.
authors.forename: Damek V
authors.initials: DV
authors.lastname: Spacek
authors.affiliation: Department of Genetics, Stanford University School of Medicine, Stanford, CA 94305, USA. Electronic address: mpsnyder@stanford.edu.
authors.forename: Michael P
authors.initials: MP
authors.lastname: Snyder
mesh_terms: D015894:Genome, Human / Q000235:genetics*; D023281:Genomics / Q000379:methods*; D059014:High-Throughput Nucleotide Sequencing / Q000379:methods*; D006801:Humans; D064307:Microbiota / Q000235:genetics*; D009369:Neoplasms / Q000235:genetics; D057285:Precision Medicine / Q000379:methods; D059467:Transcriptome / Q000235:genetics*