scholarly journals Detection of somatic BRCA 1/2 mutations in ovarian cancer – next‐generation sequencing analysis of 100 cases

2016 ◽  
Vol 5 (7) ◽  
pp. 1640-1646 ◽  
Author(s):  
Magdalena Koczkowska ◽  
Monika Zuk ◽  
Adam Gorczynski ◽  
Magdalena Ratajska ◽  
Marzena Lewandowska ◽  
...  
Keyword(s):  
Ovarian Cancer ◽  
Next Generation Sequencing ◽  
Sequencing Analysis ◽  
Next Generation ◽  
Brca 1 ◽  
Next Generation Sequencing Analysis ◽  
Generation Sequencing

Next-generation sequencing reveals mutations in RB1, CDK4 and TP53 that may promote chemo-resistance to palbociclib in ovarian cancer

2019 ◽  
Vol 34 (2) ◽  
Author(s):  
Said El Shamieh ◽  
Fatima Saleh ◽  
Shafka Assaad ◽  
Fadi Farhat
Keyword(s):  
Ovarian Cancer ◽  
Next Generation Sequencing ◽  
Cell Cycle Progression ◽  
Response To Treatment ◽  
Sequencing Analysis ◽  
Next Generation ◽  
Tensin Homolog ◽  
Induce Cell Cycle Progression ◽  
Next Generation Sequencing Analysis ◽  
Generation Sequencing

Abstract Because of the profound heterogeneity of ovarian cancer at the clinical, cellular and molecular levels, herein we discuss the molecular findings at the protein and genetic levels seen in our patient. Immunohistochemistry showed a complete loss of phosphatase and tensin homolog, this observation was the reason behind prescribing the CDK4/6 inhibitor palbociclib. However, there was no response to treatment. Next-generation sequencing analysis was performed showing a nonsense mutation, p.R552X in retinoblastoma 1 (RB1). This nonsense variation will possibly lead to a truncated protein lacking the domain responsible for interaction with E2F, an event that will induce cell cycle progression and, thus, be responsible for the chemo-resistance to palbociclib.

scholarly journals Diagnosis of Severe Tetanus Assisted by Next-Generation Sequencing Analysis of Etiology: A Case Report

2020 ◽  
Author(s):  
Yuling An ◽  
Mingming Fan ◽  
Ziyu Li ◽  
You Peng ◽  
Xiaomeng Yi ◽  
...  
Keyword(s):  
Next Generation Sequencing ◽  
Comprehensive Treatment ◽  
Sequencing Analysis ◽  
Next Generation ◽  
Next Generation Sequencing Analysis ◽  
Autonomic Instability ◽  
The Right ◽  
Next Generation Sequencing Ngs ◽  
Generation Sequencing ◽  
Severe Tetanus

Abstract We shared our successful treatment experience of a severe tetanus patient in China. A 50 year old male patient was admitted to our hospital 10 days after the right arm injury due to pain and masticatory weakness. The pathogen of wound secretion was confirmed to be clostridium tetanus by next-generation sequencing (NGS).The patient's condition rapidly progressed to a severe state with autonomic instability. After debridement and comprehensive treatment in ICU, including deep analgesia and sedation with dexmedetomidine, ventilator support and anti-infection treatment, the patient finally recovered and discharged. This case suggested that early diagnosis and reasonable intervention of severe tetanus could reduce mortality.

scholarly journals ViennaNGS: A toolbox for building efficient next- generation sequencing analysis pipelines

F1000Research ◽  
2015 ◽  
Vol 4 ◽  
pp. 50 ◽  
Author(s):  
Michael T. Wolfinger ◽  
Jörg Fallmann ◽  
Florian Eggenhofer ◽  
Fabian Amman
Keyword(s):  
Next Generation Sequencing ◽  
Sequence Motif ◽  
Software Components ◽  
Sequencing Analysis ◽  
Next Generation ◽  
File Formats ◽  
Next Generation Sequencing Analysis ◽  
Next Generation Sequencing Ngs ◽  
Ngs Data ◽  
Generation Sequencing

Recent achievements in next-generation sequencing (NGS) technologies lead to a high demand for reuseable software components to easily compile customized analysis workflows for big genomics data. We present ViennaNGS, an integrated collection of Perl modules focused on building efficient pipelines for NGS data processing. It comes with functionality for extracting and converting features from common NGS file formats, computation and evaluation of read mapping statistics, as well as normalization of RNA abundance. Moreover, ViennaNGS provides software components for identification and characterization of splice junctions from RNA-seq data, parsing and condensing sequence motif data, automated construction of Assembly and Track Hubs for the UCSC genome browser, as well as wrapper routines for a set of commonly used NGS command line tools.

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