TY - JOUR
T1 - Next Generation Sequencing Technology in the Clinic and Its Challenges
AU - Vestergaard, Lau K
AU - Oliveira, Douglas N P
AU - Høgdall, Claus K
AU - Høgdall, Estrid V
PY - 2021/4/7
Y1 - 2021/4/7
N2 - Data analysis has become a crucial aspect in clinical oncology to interpret output from next-generation sequencing-based testing. NGS being able to resolve billions of sequencing reactions in a few days has consequently increased the demand for tools to handle and analyze such large data sets. Many tools have been developed since the advent of NGS, featuring their own peculiarities. Increased awareness when interpreting alterations in the genome is therefore of utmost importance, as the same data using different tools can provide diverse outcomes. Hence, it is crucial to evaluate and validate bioinformatic pipelines in clinical settings. Moreover, personalized medicine implies treatment targeting efficacy of biological drugs for specific genomic alterations. Here, we focused on different sequencing technologies, features underlying the genome complexity, and bioinformatic tools that can impact the final annotation. Additionally, we discuss the clinical demand and design for implementing NGS.
AB - Data analysis has become a crucial aspect in clinical oncology to interpret output from next-generation sequencing-based testing. NGS being able to resolve billions of sequencing reactions in a few days has consequently increased the demand for tools to handle and analyze such large data sets. Many tools have been developed since the advent of NGS, featuring their own peculiarities. Increased awareness when interpreting alterations in the genome is therefore of utmost importance, as the same data using different tools can provide diverse outcomes. Hence, it is crucial to evaluate and validate bioinformatic pipelines in clinical settings. Moreover, personalized medicine implies treatment targeting efficacy of biological drugs for specific genomic alterations. Here, we focused on different sequencing technologies, features underlying the genome complexity, and bioinformatic tools that can impact the final annotation. Additionally, we discuss the clinical demand and design for implementing NGS.
UR - http://www.scopus.com/inward/record.url?scp=85103617603&partnerID=8YFLogxK
U2 - 10.3390/cancers13081751
DO - 10.3390/cancers13081751
M3 - Review
C2 - 33916923
SN - 2072-6694
VL - 13
JO - Cancers
JF - Cancers
IS - 8
M1 - 1751
ER -