Implementation of next generation sequencing technology for somatic mutation detection in routine laboratory practice
T Giardina, C Robinson, F Grieu-Iacopetta, M Millward… - Pathology, 2018 - Elsevier
… In the blinded validation study reported here, we evaluated NGS in the diagnostic setting
for mutational analysis of 113 samples from non-small cell lung cancer (NSCLC), colorectal …
for mutational analysis of 113 samples from non-small cell lung cancer (NSCLC), colorectal …
Validation of OncoPanel: a targeted next-generation sequencing assay for the detection of somatic variants in cancer
EP Garcia, A Minkovsky, Y Jia… - … of Pathology and …, 2017 - meridian.allenpress.com
… The analysis of somatic mutations across multiple genes in cancer specimens may be used
to aid … The analytical validation of targeted next-generation sequencing panels is important to …
to aid … The analytical validation of targeted next-generation sequencing panels is important to …
Somatic mutation panels: time to clear their names
AM Trottier, MC de Andrade Silva, Z Li, LA Godley - Cancer Genetics, 2019 - Elsevier
… and can help inform diagnosis, prognosis, … ‘somatic’ NGS panels, because all cells in a
person's body contain germline DNA, including tumors. As a result, these panels not only detect …
person's body contain germline DNA, including tumors. As a result, these panels not only detect …
[HTML][HTML] Comparison of next-generation sequencing panels and platforms for detection and verification of somatic tumor variants for clinical diagnostics
M Misyura, T Zhang, MA Sukhai, M Thomas… - The Journal of Molecular …, 2016 - Elsevier
… profiling of solid tumors, to detect variants of clinical importance for … Both NGS panels and
platforms as used in this study demonstrated comparable performance in detection of somatic …
platforms as used in this study demonstrated comparable performance in detection of somatic …
A machine learning approach for somatic mutation discovery
… This study provides a somatic mutation detection algorithm using a machine learning approach.
We trained our method using in silico mutations spiked into replicate exome sequencing …
We trained our method using in silico mutations spiked into replicate exome sequencing …
Dual deep sequencing improves the accuracy of low-frequency somatic mutation detection in cancer gene panel testing
H Ura, S Togi, Y Niida - International journal of molecular sciences, 2020 - mdpi.com
… three somatic variant callers, we found that Strelka2 detected more … sequencing with Strelka2
analysis is useful for detection of accurate somatic mutations in cancer gene panel testing. …
analysis is useful for detection of accurate somatic mutations in cancer gene panel testing. …
[HTML][HTML] Somatic mutation profiling in BRCA-negative breast and ovarian cancer patients by multigene panel sequencing
A Kwong, IWY Cheuk, VY Shin, CYS Ho… - American journal of …, 2020 - ncbi.nlm.nih.gov
… Somatic mutation analysis of 173 genes using in 2,433 breast tumors identified 13,084
somatic mutations which were predicted to affect protein sequence [13]. Another study identified …
somatic mutations which were predicted to affect protein sequence [13]. Another study identified …
Not all next generation sequencing diagnostics are created equal: understanding the nuances of solid tumor assay design for somatic mutation detection
PN Gray, CLM Dunlop, AM Elliott - Cancers, 2015 - mdpi.com
… of the significance of the detected alterations. The case study … analysis in somatic NGS
gene panel assays, but also the limitations of using NGS panels to detect CNVs in somatic …
gene panel assays, but also the limitations of using NGS panels to detect CNVs in somatic …
Targeted next-generation sequencing panel (ThyroSeq) for detection of mutations in thyroid cancer
MN Nikiforova, AI Wald, S Roy… - The Journal of …, 2013 - academic.oup.com
… Other somatic mutations, such as those of the TSHR gene, have been reported in some …
-generation sequencing as a new approach for testing a broad spectrum of point mutations that …
-generation sequencing as a new approach for testing a broad spectrum of point mutations that …
Myeloid somatic mutation panel testing in myeloproliferative neoplasms
… sequencing (NGS) panels. This review summarises the diagnostic and prognostic value of
somatic mutation testing … in myeloid NGS panels that are designed for somatic mutations, but …
somatic mutation testing … in myeloid NGS panels that are designed for somatic mutations, but …
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