title: [Novel high-throughput sequencing strategies in genetic diagnostics].
abstract: Novel high-throughput sequencing strategies in genetic diagnostics Capabilities of novel high-throughput DNA sequencing systems have revolutionized genetic research and made it possible to analyze complex eukaryotic genomes. Despite the radical improvements, sequencing of the entire human genome still remains too complicated and expensive for clinical diagnostic applications. Recently developed targeted sequencing strategies provide an immediate technological solution to analyze all clinically significant genomic regions and radically reduce sequencing costs, increase variant detection quality and limit ethical issues. In the near future, these advanced approaches can be applied for diagnostics of several diseases that have known genetic backgrounds and optimization of treatments based on individual genetic traits.
authors.affiliation: Helsingin yliopisto, biolääketieteen laitos.
authors.forename: Samuel
authors.initials: S
authors.lastname: Myllykangas
authors.forename: Juha W
authors.initials: JW
authors.lastname: Koskenvuo
authors.forename: Tero-Pekka
authors.initials: TP
authors.lastname: Alastalo
mesh_terms: D015894:Genome, Human; D023281:Genomics / Q000191:economics / Q000379:methods*; D059014:High-Throughput Nucleotide Sequencing / Q000941:ethics / Q000379:methods*; D006801:Humans