نتایج جستجو برای: روش های ngs

تعداد نتایج: 596378  

Journal: :Clinical cancer research : an official journal of the American Association for Cancer Research 2016
Cloud P Paweletz Adrian G Sacher Chris K Raymond Ryan S Alden Allison O'Connell Stacy L Mach Yanan Kuang Leena Gandhi Paul Kirschmeier Jessie M English Lee P Lim Pasi A Jänne Geoffrey R Oxnard

PURPOSE Tumor genotyping is a powerful tool for guiding non-small cell lung cancer (NSCLC) care; however, comprehensive tumor genotyping can be logistically cumbersome. To facilitate genotyping, we developed a next-generation sequencing (NGS) assay using a desktop sequencer to detect actionable mutations and rearrangements in cell-free plasma DNA (cfDNA). EXPERIMENTAL DESIGN An NGS panel was ...

2012
Antonio Marchetti Maela Del Grammastro Giampaolo Filice Lara Felicioni Giulio Rossi Paolo Graziano Giuliana Sartori Alvaro Leone Sara Malatesta Michele Iacono Luigi Guetti Patrizia Viola Felice Mucilli Franco Cuccurullo Fiamma Buttitta

Microdeletions at exon 19 are the most frequent genetic alterations affecting the Epidermal Growth Factor Receptor (EGFR) gene in non-small cell lung cancer (NSCLC) and they are strongly associated with response to treatment with tyrosine kinase inhibitors. A series of 116 NSCLC DNA samples investigated by Sanger Sequencing (SS), including 106 samples carrying exon 19 EGFR deletions and 10 with...

2017
Roy Moscona Daniela Ram Marina Wax Efrat Bucris Itzchak Levy Ella Mendelson Orna Mor

INTRODUCTION Transmitted drug-resistance mutations (TDRM) may hamper successful anti-HIV-1 therapy and impact future control of the HIV-1 epidemic. Recently infected, therapy-naïve individuals are best suited for surveillance of such TDRM. In this study, TDRM, detected by next-generation sequencing (NGS) were compared to those identified by Sanger-based population sequencing (SBS) in recently i...

2015
Mohan A. V. S. K. Katta Aamir W. Khan Dadakhalandar Doddamani Mahendar Thudi Rajeev K. Varshney Junwen Wang

Rapid popularity and adaptation of next generation sequencing (NGS) approaches have generated huge volumes of data. High throughput platforms like Illumina HiSeq produce terabytes of raw data that requires quick processing. Quality control of the data is an important component prior to the downstream analyses. To address these issues, we have developed a quality control pipeline, NGS-QCbox that...

Journal: :Genetics and molecular research : GMR 2016
S Lian Y Tu Y Wang X Chen L Wang

Repetitive sequences of variable length are common in almost all eukaryotic genomes, and most of them are presumed to have important biomedical functions and can cause genomic instability. Next-generation sequencing (NGS) technologies provide the possibility of identifying capturing these repetitive sequences directly from the NGS data. In this study, we assessed the performances in identifying...

2015
Lyn S Chitty Sarah Mason Angela N Barrett Fiona McKay Nicholas Lench Rebecca Daley Lucy A Jenkins

OBJECTIVE Accurate prenatal diagnosis of genetic conditions can be challenging and usually requires invasive testing. Here, we demonstrate the potential of next-generation sequencing (NGS) for the analysis of cell-free DNA in maternal blood to transform prenatal diagnosis of monogenic disorders. METHODS Analysis of cell-free DNA using a PCR and restriction enzyme digest (PCR-RED) was compared...

2016
Wendy W. J. de Leng Christa G. Gadellaa-van Hooijdonk Françoise A. S. Barendregt-Smouter Marco J. Koudijs Ies Nijman John W. J. Hinrichs Edwin Cuppen Stef van Lieshout Robert D. Loberg Maja de Jonge Emile E. Voest Roel A. de Weger Neeltje Steeghs Marlies H. G. Langenberg Stefan Sleijfer Stefan M. Willems Martijn P. Lolkema Ajay Goel

BACKGROUND Targeted Next Generation Sequencing (NGS) offers a way to implement testing of multiple genetic aberrations in diagnostic pathology practice, which is necessary for personalized cancer treatment. However, no standards regarding input material have been defined. This study therefore aimed to determine the effect of the type of input material (e.g. formalin fixed paraffin embedded (FFP...

2017
Pieter Deschaght Ana Paula Vintém Marc Logghe Miguel Conde David Felix Rob Mensink Juliana Gonçalves Jorn Audiens Yanik Bruynooghe Rita Figueiredo Diana Ramos Robbe Tanghe Daniela Teixeira Liesbeth Van de Ven Catelijne Stortelers Bruno Dombrecht

Next-generation sequencing (NGS) has been applied successfully to the field of therapeutic antibody discovery, often outperforming conventional screening campaigns which tend to identify only the more abundant selective antibody sequences. We used NGS to mine the functional nanobody repertoire from a phage-displayed camelid immune library directed to the recepteur d'origine nantais (RON) recept...

2017
Viola Ravasio Marco Ritelli Andrea Legati Edoardo Giacopuzzi

Exome sequencing approach is extensively used in research and diagnostic laboratories to discover pathological variants and study genetic architecture of human diseases. Even if present platforms produce high quality sequencing data, false positives variants remain an issue and can confound subsequent analysis and result interpretation. Here, we propose a new tool named GARFIELD-NGS (Genomic vA...

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