TY - JOUR
T1 - Review of clinical next-generation sequencing
AU - Yohe, Sophia
AU - Thyagarajan, Bharat
PY - 2017/11
Y1 - 2017/11
N2 - Context.-Next-generation sequencing (NGS) is a technology being used by many laboratories to test for inherited disorders and tumor mutations. This technology is new for many practicing pathologists, who may not be familiar with the uses, methodology, and limitations of NGS. Objective.-To familiarize pathologists with several aspects of NGS, including current and expanding uses; methodology including wet bench aspects, bioinformatics, and interpretation; validation and proficiency; limitations; and issues related to the integration of NGS data into patient care. Data Sources.-The review is based on peer-reviewed literature and personal experience using NGS in a clinical setting at a major academic center. Conclusions.-The clinical applications of NGS will increase as the technology, bioinformatics, and resources evolve to address the limitations and improve quality of results. The challenge for clinical laboratories is to ensure testing is clinically relevant, cost-effective, and can be integrated into clinical care.
AB - Context.-Next-generation sequencing (NGS) is a technology being used by many laboratories to test for inherited disorders and tumor mutations. This technology is new for many practicing pathologists, who may not be familiar with the uses, methodology, and limitations of NGS. Objective.-To familiarize pathologists with several aspects of NGS, including current and expanding uses; methodology including wet bench aspects, bioinformatics, and interpretation; validation and proficiency; limitations; and issues related to the integration of NGS data into patient care. Data Sources.-The review is based on peer-reviewed literature and personal experience using NGS in a clinical setting at a major academic center. Conclusions.-The clinical applications of NGS will increase as the technology, bioinformatics, and resources evolve to address the limitations and improve quality of results. The challenge for clinical laboratories is to ensure testing is clinically relevant, cost-effective, and can be integrated into clinical care.
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U2 - 10.5858/arpa.2016-0501-RA
DO - 10.5858/arpa.2016-0501-RA
M3 - Review article
C2 - 28782984
AN - SCOPUS:85032801002
SN - 0003-9985
VL - 141
SP - 1544
EP - 1557
JO - Archives of Pathology and Laboratory Medicine
JF - Archives of Pathology and Laboratory Medicine
IS - 11
ER -