title: [Whole genome sequencing: a qualitative leap forward in genetic studies].
abstract: At the present time the so-called parallel or next generation sequencing (NGS) technique is rapidly expanding and developing; this process establishes a jump by several orders of magnitude in the length of the fragments sequenced and the speed with which this sequencing is carried out. NGS allows a whole human genome to be sequenced in the same amount of time and with the same economic cost required to sequence two or three large genes using the Sanger technique. Use of NGS allows us to go from examining specific genes selected by studying the phenotype to exploring whole genomes of groups of humans or other species. This is making it possible to know not only what an individual genome is like but also how the human genome changes from one person to another, how genomes differ from one group of humans to another, and even how the genome differs in a tumour with respect to the healthy genome of the host.
authors.affiliation: Servicio de Neurología, Hospital Universitario Ramón y Cajal, Madrid, España. adriano.jimenez@hrc.es
authors.forename: Adriano
authors.initials: A
authors.lastname: Jiménez-Escrig
authors.forename: Isabel
authors.initials: I
authors.lastname: Gobernado
authors.forename: Antonio
authors.initials: A
authors.lastname: Sánchez-Herranz
mesh_terms: D005820:Genetic Testing; D016045:Human Genome Project; D006801:Humans; D017422:Sequence Analysis, DNA / Q000379:methods