title: Innovative technology for cancer risk analysis.
abstract: After completion of the Human Genome Project, analysis of genetic and genomic variations in different pathological states became possible. The capillary system based on Sanger methods is still very expensive in terms of time, cost and professionalism required. For this reason, the National Human Genome Institute proposed an 'advanced sequencing technology development' project with the aim of sequencing a genome in 1 day for $1000. Three validated platforms are commercially available and single molecule sequencing methods have been recently introduced, which are not only competitive in time and costs, but display greater accuracy than 'past generation' sequencing. Next generation technology allows, in a single experiment, the identification of copy number variation and large rearrangements, or detection of fusion transcripts analysis thus permitting the evaluation of cancer risk at multiple levels (genomic, transcriptomic, proteomic, epigenetic).
authors.affiliation: Clinical Experimental Laboratory, National Cancer Centre Giovanni Paolo II, Via Hahnemann 10, 70126 Bari, Italy. s.tommasi@oncologico.bari.it
authors.forename: S
authors.initials: S
authors.lastname: Tommasi
authors.forename: S
authors.initials: S
authors.lastname: Tommas
authors.forename: K
authors.initials: K
authors.lastname: Danza
authors.forename: B
authors.initials: B
authors.lastname: Pilato
authors.forename: S
authors.initials: S
authors.lastname: De Summa
mesh_terms: D020022:Genetic Predisposition to Disease; D005820:Genetic Testing / Q000191:economics / Q000379:methods; D015894:Genome, Human; D016045:Human Genome Project; D006801:Humans; D009369:Neoplasms / Q000235:genetics*; D018570:Risk Assessment / Q000191:economics / Q000379:methods*; D017422:Sequence Analysis, DNA / Q000191:economics / Q000295:instrumentation / Q000379:methods*