scholarly journals Detection of TSC1 / TSC2 mosaic variants in patients with cardiac rhabdomyoma and tuberous sclerosis complex by hybrid‐capture next‐generation sequencing

2021 ◽  
Author(s):  
Siyu Wang ◽  
Hairui Sun ◽  
Jianbin Wang ◽  
Xiaoyan Gu ◽  
Lu Han ◽  
...  
Keyword(s):  
Next Generation Sequencing ◽  
Tuberous Sclerosis ◽  
Tuberous Sclerosis Complex ◽  
Next Generation ◽  
Cardiac Rhabdomyoma ◽  
Hybrid Capture ◽  
Generation Sequencing

scholarly journals Different Methods in HPV Genotyping of Anogenital and Oropharyngeal Lesions: Comparison between VisionArray® Technology, Next Generation Sequencing, and Hybrid Capture Assay

2021 ◽  
Vol 2 (1) ◽  
pp. 29-41
Author(s):  
Giorgia Acquaviva ◽  
Michela Visani ◽  
Viviana Sanza ◽  
Antonio De Leo ◽  
Thais Maloberti ◽  
...  
Keyword(s):  
Next Generation Sequencing ◽  
Turnaround Time ◽  
Hpv Infection ◽  
Human Papillomaviruses ◽  
Next Generation ◽  
Hybrid Capture ◽  
Capture Assay ◽  
Anogenital Area ◽  
Next Generation Sequencing Ngs ◽  
Generation Sequencing

(1) Background: Human papillomaviruses (HPVs) are known to be related to the development of about 5% of all human cancers. The clinical relevance of HPV infection has been deeply investigated in carcinomas of the oropharyngeal area, uterine cervix, and anogenital area. To date, several different methods have been used for detecting HPV infection. The aim of the present study was to compare three different methods for the diagnosis of the presence of the HPV genome. (2) Methods: A total of 50 samples were analyzed. Twenty-five of them were tested using both next generation sequencing (NGS) and VisionArray® technology, the other 25 were tested using Hybrid Capture (HC) II assay and VisionArray® technology. (3) Results: A substantial agreement was obtained using NGS and VisionArray® (κ = 0.802), as well as between HC II and VisionArray® (κ = 0.606). In both analyses, the concordance increased if only high risk HPVs I(HR-HPVs) were considered as “positive”. (4) Conclusions: Our data highlighted the importance of technical choice in HPV characterization, which should be guided by the clinical aims, costs, starting material, and turnaround time for results.

Broad, hybrid capture-based next generation sequencing identified actionable genomic alterations in HER2-negative breast cancer.

2016 ◽  
Vol 34 (15_suppl) ◽  
pp. e12544-e12544 ◽  
Author(s):  
Helei Hou ◽  
Dong Liu ◽  
Na Zhou ◽  
Jinping Zhang ◽  
Chuantao Zhang ◽  
...  
Keyword(s):  
Breast Cancer ◽  
Next Generation Sequencing ◽  
Next Generation ◽  
Genomic Alterations ◽  
Hybrid Capture ◽  
Generation Sequencing
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