title: Advances in clinical next-generation sequencing: target enrichment and sequencing technologies.
abstract: The huge parallel sequencing capabilities of next generation sequencing technologies have made them the tools of choice to characterize genomic aberrations for research and diagnostic purposes. For clinical applications, screening the whole genome or exome is challenging owing to the large genomic area to be sequenced, associated costs, complexity of data, and lack of known clinical significance of all genes. Consequently, routine screening involves limited markers with established clinical relevance. This process, referred to as targeted genome sequencing, requires selective enrichment of the genomic areas comprising these markers via one of several primer or probe-based enrichment strategies, followed by sequencing of the enriched genomic areas. Here, the authors review current target enrichment approaches and next generation sequencing platforms, focusing on the underlying principles, capabilities, and limitations of each technology along with validation and implementation for clinical testing.
authors.affiliation: a Department of Pathology and Immunology , Baylor College of Medicine , Houston , TX , USA.
authors.forename: Leomar Y
authors.initials: LY
authors.lastname: Ballester
authors.affiliation: b Department of Hematopathology , The University of Texas MD Anderson Cancer Center , Houston , TX , USA.
authors.forename: Rajyalakshmi
authors.initials: R
authors.lastname: Luthra
authors.affiliation: b Department of Hematopathology , The University of Texas MD Anderson Cancer Center , Houston , TX , USA.
authors.forename: Rashmi
authors.initials: R
authors.lastname: Kanagal-Shamanna
authors.affiliation: b Department of Hematopathology , The University of Texas MD Anderson Cancer Center , Houston , TX , USA.
authors.forename: Rajesh R
authors.initials: RR
authors.lastname: Singh
mesh_terms: D059014:High-Throughput Nucleotide Sequencing / Q000379:methods* / Q000592:standards; D025202:Molecular Diagnostic Techniques / Q000379:methods* / Q000592:standards; D016133:Polymerase Chain Reaction / Q000379:methods / Q000592:standards; D017422:Sequence Analysis, DNA / Q000379:methods* / Q000592:standards
keywords: Next Generation Sequencing; sequencers; target enrichment and cancer genomics; targeted sequencing