title: [Next-generation DNA sequencing in clinical diagnostics].
abstract: The advent of next generation sequencing (NGS) technologies is so scale-changing that it modifies molecular diagnostics indications and induces laboratories to rethink their diagnostic strategies, until now based on the Sanger sequencing routine. Several high-throughput approaches are available from the sequencing of a gene panel, to an exome, or even a genome. In all cases, a tremendous amount of data is generated, which has to be filtered, interpreted and analyzed using powerful bioinformatics tools. In parallel, ethical considerations are raised to avoid the potential drifts of these powerful approaches. In all medical fields, and particularly in pediatrics, this new strategy offers better efficacy and faster mutation identification, allowing better support and care for patients and their families and even improving genetic counseling. In the present paper, we discuss the different NGS-based approaches and strategies as well as the issues involved in these new technologies applied to molecular diagnosis of rare diseases. Altogether, rare diseases affect more than 3 million people in France and are responsible for about one-third of childhood deaths.
authors.affiliation: Département de génétique médicale et de biologie cellulaire, hôpital d'Enfants de la Timone, AP-HM, 264, rue Saint-Pierre, 13385 Marseille cedex 5, France; Aix Marseille université, Inserm, GMGF, faculté de médecine, 27, boulevard Jean-Moulin, 13385 Marseille, France.
authors.forename: C
authors.initials: C
authors.lastname: Lacoste
authors.affiliation: Aix Marseille université, Inserm, GMGF, faculté de médecine, 27, boulevard Jean-Moulin, 13385 Marseille, France; Service de pédiatrie multidisciplinaire, hôpital d'enfants de la Timone, AP-HM, 264, rue Saint-Pierre, 13385 Marseille, France.
authors.forename: A
authors.initials: A
authors.lastname: Fabre
authors.affiliation: Département de génétique médicale et de biologie cellulaire, hôpital d'Enfants de la Timone, AP-HM, 264, rue Saint-Pierre, 13385 Marseille cedex 5, France.
authors.forename: C
authors.initials: C
authors.lastname: Pécheux
authors.affiliation: Département de génétique médicale et de biologie cellulaire, hôpital d'Enfants de la Timone, AP-HM, 264, rue Saint-Pierre, 13385 Marseille cedex 5, France; Aix Marseille université, Inserm, GMGF, faculté de médecine, 27, boulevard Jean-Moulin, 13385 Marseille, France.
authors.forename: N
authors.initials: N
authors.lastname: Lévy
authors.affiliation: Département de génétique médicale et de biologie cellulaire, hôpital d'Enfants de la Timone, AP-HM, 264, rue Saint-Pierre, 13385 Marseille cedex 5, France; Aix Marseille université, Inserm, GMGF, faculté de médecine, 27, boulevard Jean-Moulin, 13385 Marseille, France.
authors.forename: M
authors.initials: M
authors.lastname: Krahn
authors.affiliation: Département de génétique médicale et de biologie cellulaire, hôpital d'Enfants de la Timone, AP-HM, 264, rue Saint-Pierre, 13385 Marseille cedex 5, France; Espace éthique Méditerranéen/UMR 7268 ADES, hôpital d'adultes de la Timone, 264, rue Saint-Pierre, 13385 Marseille, France.
authors.forename: P
authors.initials: P
authors.lastname: Malzac
authors.affiliation: Département de génétique médicale et de biologie cellulaire, hôpital d'Enfants de la Timone, AP-HM, 264, rue Saint-Pierre, 13385 Marseille cedex 5, France; Aix Marseille université, Inserm, GMGF, faculté de médecine, 27, boulevard Jean-Moulin, 13385 Marseille, France.
authors.forename: N
authors.initials: N
authors.lastname: Bonello-Palot
authors.affiliation: Département de génétique médicale et de biologie cellulaire, hôpital d'Enfants de la Timone, AP-HM, 264, rue Saint-Pierre, 13385 Marseille cedex 5, France; Aix Marseille université, Inserm, GMGF, faculté de médecine, 27, boulevard Jean-Moulin, 13385 Marseille, France.
authors.forename: C
authors.initials: C
authors.lastname: Badens
authors.affiliation: Département de génétique médicale et de biologie cellulaire, hôpital d'Enfants de la Timone, AP-HM, 264, rue Saint-Pierre, 13385 Marseille cedex 5, France; Aix Marseille université, Inserm, GMGF, faculté de médecine, 27, boulevard Jean-Moulin, 13385 Marseille, France. Electronic address: patrice.bourgeois@ap-hm.fr.
authors.forename: P
authors.initials: P
authors.lastname: Bourgeois
mesh_terms: D002648:Child; D004252:DNA Mutational Analysis / Q000379:methods / Q000639:trends; D059472:Exome / Q000235:genetics; D005544:Forecasting; D005602:France; D005817:Genetic Counseling / Q000379:methods / Q000639:trends; D016678:Genome / Q000235:genetics; D006801:Humans; D025202:Molecular Diagnostic Techniques / Q000379:methods* / Q000639:trends*; D017422:Sequence Analysis, DNA / Q000379:methods* / Q000639:trends*