title: Next-generation sequencing entering the clinical arena.
abstract: Over the last decade the genetic etiology of many heritable diseases could be resolved. For heart muscle diseases, so called cardiomyopathies, mutations in more than 40 different genes have been identified. Due to this large genetic heterogeneity and missing of adequate gene-diagnostic tools, most patients are not genetically characterized, which would be important for individualized patient care. Currently, next-generation sequencing technologies are revolutionizing genetic and epigenetic research, since they are capable to produce billions of bases of sequence information in a single experiment. Accordingly, this powerful technology can now also open avenues for genetic diagnostics. The scope of this article is to illustrate technical approaches, clinical applications, and yet unsolved problems of next-generation sequencing entering the clinical arena.
authors.affiliation: Department of Internal Medicine III, University of Heidelberg, Im Neuenheimer Feld 350, Heidelberg 69120, Germany.
authors.forename: Jan
authors.initials: J
authors.lastname: Haas
authors.forename: Hugo A
authors.initials: HA
authors.lastname: Katus
authors.forename: Benjamin
authors.initials: B
authors.lastname: Meder
mesh_terms: D009202:Cardiomyopathies / Q000175:diagnosis / Q000235:genetics; D018740:Genetic Heterogeneity; D005820:Genetic Testing / Q000379:methods*; D059014:High-Throughput Nucleotide Sequencing / Q000295:instrumentation / Q000379:methods*; D006801:Humans; D009154:Mutation; D057285:Precision Medicine; D017422:Sequence Analysis, DNA / Q000379:methods*