title: A glimpse into past, present, and future DNA sequencing.
abstract: Current advances in DNA sequencing technologies are dropping down sequencing cost while increasing throughput at a pace never shown before. Past-decade great milestones, as the establishment of a reference human genome (amongst others) and large-scale human genetic variation study in the 1000 Genome project are, in conjunction with the use of these techniques, triggering advances in many areas of basic and applied science. These tools, stored in and combined with the vast amount of information present in biological online databases are, with the use of automated interpretation and analysis tools, allowing the fulfillment of increasingly ambitious studies in many areas and also are democratizing the access to information, interpretation and technologies, being the first opportunity for researchers to assess the influence of genetics in complex events as multifactorial diseases, evolutionary studies, metagenomics, transcriptomics, etc. In this review, we present the current state of the art of these technologies, focusing on second generation sequencing, from sample and library preparation to sequencing chemistries and bioinformatic software available for final data analysis and visualisation, with its possible applications. We also make an overview of first and third generation, due to its historical importance and for being the upcoming future tools for genetic analysis, respectively.
authors.affiliation: Unidad de Diagnóstico y Tratamiento de Enfermedades Metabólicas Congénitas, Hospital Clínico Universitario de Santiago, A Choupana s/n, 15706 Santiago de Compostela, Spain. marcosmorey84@gmail.com
authors.forename: Marcos
authors.initials: M
authors.lastname: Morey
authors.forename: Ana
authors.initials: A
authors.lastname: Fernández-Marmiesse
authors.forename: Daisy
authors.initials: D
authors.lastname: Castiñeiras
authors.forename: José M
authors.initials: JM
authors.lastname: Fraga
authors.forename: María L
authors.initials: ML
authors.lastname: Couce
authors.forename: José A
authors.initials: JA
authors.lastname: Cocho
mesh_terms: D019295:Computational Biology; D015894:Genome, Human; D006801:Humans; D020641:Polymorphism, Single Nucleotide / Q000235:genetics*; D017422:Sequence Analysis, DNA / Q000379:methods*; D012984:Software
keywords: DNA sequencing; Genome sequencing; High throughput genomics; Next generation sequencing; Sequencing technologies; Third generation sequencing