TY - JOUR
T1 - Advances in clinical next-generation sequencing
T2 - Target enrichment and sequencing technologies
AU - Ballester, Leomar Y.
AU - Luthra, Rajyalakshmi
AU - Kanagal-Shamanna, Rashmi
AU - Singh, Rajesh R
N1 - Publisher Copyright:
© 2016 Taylor & Francis.
PY - 2016/3/3
Y1 - 2016/3/3
N2 - 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.
AB - 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.
KW - Next Generation Sequencing
KW - sequencers
KW - target enrichment and cancer genomics
KW - targeted sequencing
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U2 - 10.1586/14737159.2016.1133298
DO - 10.1586/14737159.2016.1133298
M3 - Review article
C2 - 26680590
AN - SCOPUS:84959376910
SN - 1473-7159
VL - 16
SP - 357
EP - 372
JO - Expert Review of Molecular Diagnostics
JF - Expert Review of Molecular Diagnostics
IS - 3
ER -